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RYR1

Drugs affected by RYR1

Ryanodine receptor 1

7 medications 2 brand products

About RYR1

Certain RYR1 variants confer susceptibility to malignant hyperthermia, a serious reaction to triggering anesthetics. The Gene2Rx assessment concerns a defined set of variants and is available only for eligible original WGS data.[1]

No listed variant detected does not rule out susceptibility. Missing sites and variants outside the targeted screen remain limitations. Share personal or family anesthesia reactions with the anesthesia team regardless of this result.

What we test for RYR1

Gene2Rx uses definitions covering 346 named RYR1 alleles, built from 346 variants in CPIC targeted screen. WGS only; no listed variant detected does not rule out susceptibility.

346
Named alleles
346
Defined variants
CPIC targeted screen
Source
GRCh37/GRCh38
Genome build
Malignant Hyperthermia associated 346
Supported RYR1 definitions
  • c.38T>G: Malignant Hyperthermia associated
  • c.51_53del: Uncertain function
  • c.97A>G: Malignant Hyperthermia associated
  • c.103T>C: Malignant Hyperthermia associated
  • c.119G>C: Uncertain function
  • c.130C>T: Malignant Hyperthermia associated
  • c.131G>A: Uncertain function
  • c.152C>A: Uncertain function
  • c.178G>A: Uncertain function
  • c.178G>T: Uncertain function
  • c.190T>C: Uncertain function
  • c.212C>A: Uncertain function
  • c.251C>T: Uncertain function
  • c.418G>A: Normal function
  • c.455C>A: Malignant Hyperthermia associated
  • c.463C>A: Malignant Hyperthermia associated
  • c.467G>A: Uncertain function
  • c.479A>G: Uncertain function
  • c.487C>T: Malignant Hyperthermia associated
  • c.488G>A: Uncertain function
  • c.488G>T: Malignant Hyperthermia associated
  • c.493G>A: Uncertain function
  • c.496G>A: Uncertain function
  • c.497A>G: Uncertain function
  • c.526G>A: Uncertain function
  • c.528G>T: Uncertain function
  • c.529C>T: Malignant Hyperthermia associated
  • c.533A>C: Uncertain function
  • c.533A>G: Malignant Hyperthermia associated
  • c.625G>A: Uncertain function
  • c.641C>T: Uncertain function
  • c.652G>A: Uncertain function
  • c.677T>A: Uncertain function
  • c.680A>T: Uncertain function
  • c.742G>A: Malignant Hyperthermia associated
  • c.742G>C: Malignant Hyperthermia associated
  • c.946C>T: Uncertain function
  • c.947G>T: Uncertain function
  • c.982C>T: Malignant Hyperthermia associated
  • c.992_994dup: Uncertain function
  • c.1021G>A: Malignant Hyperthermia associated
  • c.1021G>C: Malignant Hyperthermia associated
  • c.1024G>A: Malignant Hyperthermia associated
  • c.1100G>A: Uncertain function
  • c.1100G>T: Uncertain function
  • c.1144C>A: Uncertain function
  • c.1201C>A: Uncertain function
  • c.1201C>G: Uncertain function
  • c.1201C>T: Malignant Hyperthermia associated
  • c.1202G>A: Malignant Hyperthermia associated
  • c.1202G>T: Malignant Hyperthermia associated
  • c.1209C>G: Uncertain function
  • c.1390C>A: Malignant Hyperthermia associated
  • c.1411C>T: Uncertain function
  • c.1422G>T: Uncertain function
  • c.1453A>G: Uncertain function
  • c.1459C>G: Uncertain function
  • c.1460T>C: Uncertain function
  • c.1475G>A: Uncertain function
  • c.1553T>C: Uncertain function
  • c.1565A>C: Malignant Hyperthermia associated
  • c.1565A>G: Malignant Hyperthermia associated
  • c.1589G>A: Malignant Hyperthermia associated
  • c.1597C>A: Uncertain function
  • c.1597C>T: Malignant Hyperthermia associated
  • c.1598G>A: Uncertain function
  • c.1615T>C: Malignant Hyperthermia associated
  • c.1615T>G: Malignant Hyperthermia associated
  • c.1630G>T: Malignant Hyperthermia associated
  • c.1654C>T: Malignant Hyperthermia associated
  • c.1834G>C: Uncertain function
  • c.1840C>T: Malignant Hyperthermia associated
  • c.1841G>T: Malignant Hyperthermia associated
  • c.2050G>C: Uncertain function
  • c.2122G>A: Uncertain function
  • c.2447C>T: Normal function
  • c.2537C>T: Uncertain function
  • c.2654G>A: Uncertain function
  • c.2797G>A: Normal function
  • c.2924G>A: Uncertain function
  • c.2996G>A: Uncertain function
  • c.3095G>A: Uncertain function
  • c.3127C>T: Uncertain function
  • c.3166G>A: Uncertain function
  • c.3166G>C: Malignant Hyperthermia associated
  • c.3172G>A: Uncertain function
  • c.3224G>A: Normal function
  • c.3418C>T: Uncertain function
  • c.3527C>T: Uncertain function
  • c.3656A>C: Uncertain function
  • c.3667G>A: Uncertain function
  • c.4024A>G: Normal function
  • c.4055C>G: Normal function
  • c.4178A>G: Normal function
  • c.4400A>G: Uncertain function
  • c.4711A>G: Normal function
  • c.4747C>T: Uncertain function
  • c.4763C>T: Uncertain function
  • c.4775C>T: Uncertain function
  • c.4999C>T: Normal function
  • c.5024T>C: Uncertain function
  • c.5033A>G: Uncertain function
  • c.5036G>A: Normal function
  • c.5132A>G: Uncertain function
  • c.5183C>T: Malignant Hyperthermia associated
  • c.5186T>G: Uncertain function
  • c.5317C>T: Normal function
  • c.5341T>C: Uncertain function
  • c.5360C>T: Normal function
  • c.5440A>G: Uncertain function
  • c.5441T>A: Uncertain function
  • c.5890C>T: Uncertain function
  • c.6037A>C: Uncertain function
  • c.6178G>T: Normal function
  • c.6302T>A: Uncertain function
  • c.6304G>C: Uncertain function
  • c.6349G>C: Malignant Hyperthermia associated
  • c.6377G>A: Uncertain function
  • c.6387C>G: Malignant Hyperthermia associated
  • c.6388G>A: Uncertain function
  • c.6478G>A: Uncertain function
  • c.6487C>T: Malignant Hyperthermia associated
  • c.6488G>A: Malignant Hyperthermia associated
  • c.6488G>C: Malignant Hyperthermia associated
  • c.6488G>T: Malignant Hyperthermia associated
  • c.6502G>A: Malignant Hyperthermia associated
  • c.6544A>T: Uncertain function
  • c.6548G>A: Uncertain function
  • c.6599C>T: Malignant Hyperthermia associated
  • c.6612C>G: Uncertain function
  • c.6617C>G: Malignant Hyperthermia associated
  • c.6617C>T: Malignant Hyperthermia associated
  • c.6628G>T: Malignant Hyperthermia associated
  • c.6635T>A: Uncertain function
  • c.6640G>A: Uncertain function
  • c.6670C>T: Normal function
  • c.6671G>A: Uncertain function
  • c.6710G>A: Uncertain function
  • c.6742C>T: Uncertain function
  • c.6743G>A: Uncertain function
  • c.6757C>T: Malignant Hyperthermia associated
  • c.6838G>A: Malignant Hyperthermia associated
  • c.6847A>C: Uncertain function
  • c.6961A>G: Normal function
  • c.7007G>A: Malignant Hyperthermia associated
  • c.7018T>C: Uncertain function
  • c.7025A>G: Normal function
  • c.7032G>C: Uncertain function
  • c.7035C>A: Malignant Hyperthermia associated
  • c.7036G>A: Uncertain function
  • c.7042_7044delGAG: Malignant Hyperthermia associated
  • c.7043A>G: Malignant Hyperthermia associated
  • c.7048G>A: Malignant Hyperthermia associated
  • c.7060G>A: Malignant Hyperthermia associated
  • c.7063C>T: Malignant Hyperthermia associated
  • c.7073T>A: Uncertain function
  • c.7075C>T: Uncertain function
  • c.7076G>A: Malignant Hyperthermia associated
  • c.7084G>A: Malignant Hyperthermia associated
  • c.7085A>G: Uncertain function
  • c.7089C>G: Uncertain function
  • c.7090T>G: Malignant Hyperthermia associated
  • c.7097C>G: Uncertain function
  • c.7099G>A: Uncertain function
  • c.7112A>G: Uncertain function
  • c.7123G>A: Malignant Hyperthermia associated
  • c.7123G>C: Malignant Hyperthermia associated
  • c.7124G>C: Malignant Hyperthermia associated
  • c.7199A>G: Uncertain function
  • c.7210G>A: Uncertain function
  • c.7282G>A: Malignant Hyperthermia associated
  • c.7291G>A: Malignant Hyperthermia associated
  • c.7291G>T: Malignant Hyperthermia associated
  • c.7292A>T: Malignant Hyperthermia associated
  • c.7300G>A: Malignant Hyperthermia associated
  • c.7304G>A: Malignant Hyperthermia associated
  • c.7304G>T: Malignant Hyperthermia associated
  • c.7307G>A: Uncertain function
  • c.7310C>T: Malignant Hyperthermia associated
  • c.7317G>C: Uncertain function
  • c.7354C>T: Malignant Hyperthermia associated
  • c.7355G>A: Uncertain function
  • c.7355G>C: Uncertain function
  • c.7358T>C: Malignant Hyperthermia associated
  • c.7360C>T: Malignant Hyperthermia associated
  • c.7361G>A: Malignant Hyperthermia associated
  • c.7372C>T: Malignant Hyperthermia associated
  • c.7373G>A: Malignant Hyperthermia associated
  • c.7373G>T: Malignant Hyperthermia associated
  • c.7385C>T: Uncertain function
  • c.7487C>T: Uncertain function
  • c.7522C>G: Uncertain function
  • c.7522C>T: Malignant Hyperthermia associated
  • c.7523G>A: Malignant Hyperthermia associated
  • c.7528T>C: Uncertain function
  • c.7625G>A: Uncertain function
  • c.7760A>G: Uncertain function
  • c.7771C>G: Uncertain function
  • c.7771C>T: Uncertain function
  • c.7777C>G: Uncertain function
  • c.7778G>A: Uncertain function
  • c.7787C>T: Uncertain function
  • c.7816T>A: Normal function
  • c.7879G>A: Uncertain function
  • c.7879G>C: Malignant Hyperthermia associated
  • c.8005G>A: Uncertain function
  • c.8026C>T: Malignant Hyperthermia associated
  • c.8054C>T: Uncertain function
  • c.8188G>C: Uncertain function
  • c.8189A>G: Malignant Hyperthermia associated
  • c.8198G>A: Uncertain function
  • c.8290G>A: Uncertain function
  • c.8327C>T: Normal function
  • c.8360C>G: Normal function
  • c.8518C>T: Uncertain function
  • c.8527T>C: Uncertain function
  • c.8600T>A: Uncertain function
  • c.8638G>A: Uncertain function
  • c.8654C>G: Uncertain function
  • c.8729C>T: Uncertain function
  • c.8926C>T: Uncertain function
  • c.9152G>A: Uncertain function
  • c.9268G>A: Uncertain function
  • c.9310G>A: Malignant Hyperthermia associated
  • c.9353C>T: Normal function
  • c.9356G>A: Uncertain function
  • c.9499C>T: Uncertain function
  • c.9635A>G: Uncertain function
  • c.9649T>C: Uncertain function
  • c.9652G>A: Uncertain function
  • c.9676G>C: Uncertain function
  • c.9758T>C: Uncertain function
  • c.9797T>C: Uncertain function
  • c.9848G>A: Uncertain function
  • c.9850T>A: Uncertain function
  • c.9868G>A: Uncertain function
  • c.10042C>T: Uncertain function
  • c.10043G>A: Uncertain function
  • c.10097G>A: Normal function
  • c.10100A>G: Uncertain function
  • c.10229C>A: Uncertain function
  • c.10237A>T: Uncertain function
  • c.10252A>G: Uncertain function
  • c.10556C>T: Uncertain function
  • c.10616G>A: Normal function
  • c.10747G>C: Normal function
  • c.10750G>C: Uncertain function
  • c.10891G>T: Uncertain function
  • c.11086G>C: Uncertain function
  • c.11120G>T: Uncertain function
  • c.11126C>T: Uncertain function
  • c.11132C>T: Uncertain function
  • c.11266C>G: Normal function
  • c.11314C>T: Uncertain function
  • c.11315G>A: Malignant Hyperthermia associated
  • c.11416G>A: Uncertain function
  • c.11518G>A: Uncertain function
  • c.11708G>A: Malignant Hyperthermia associated
  • c.11723A>T: Uncertain function
  • c.11748T>G: Uncertain function
  • c.11798A>G: Normal function
  • c.11813G>A: Uncertain function
  • c.11947C>T: Uncertain function
  • c.11953T>C: Uncertain function
  • c.11958C>G: Malignant Hyperthermia associated
  • c.11969G>T: Malignant Hyperthermia associated
  • c.12028G>A: Uncertain function
  • c.12064A>G: Uncertain function
  • c.12115A>T: Uncertain function
  • c.12121C>T: Uncertain function
  • c.12149C>A: Malignant Hyperthermia associated
  • c.12242C>T: Uncertain function
  • c.12310G>C: Normal function
  • c.12355A>T: Uncertain function
  • c.12383C>T: Uncertain function
  • c.12398A>G: Uncertain function
  • c.12406C>A: Normal function
  • c.12413T>C: Uncertain function
  • c.12532G>A: Uncertain function
  • c.12533G>T: Uncertain function
  • c.12553G>A: Normal function
  • c.12689T>G: Uncertain function
  • c.12700G>C: Malignant Hyperthermia associated
  • c.12700G>T: Malignant Hyperthermia associated
  • c.12848A>T: Uncertain function
  • c.12881C>T: Normal function
  • c.12884C>T: Normal function
  • c.13502C>T: Normal function
  • c.13505A>G: Uncertain function
  • c.13513G>C: Normal function
  • c.13672C>T: Uncertain function
  • c.13673G>A: Uncertain function
  • c.13702C>G: Uncertain function
  • c.13760C>T: Uncertain function
  • c.13913G>A: Uncertain function
  • c.13918A>G: Uncertain function
  • c.13934G>A: Uncertain function
  • c.13990T>C: Uncertain function
  • c.13994_13995delTCinsCT: Uncertain function
  • c.14002C>T: Uncertain function
  • c.14051T>C: Uncertain function
  • c.14126C>T: Uncertain function
  • c.14168G>A: Normal function
  • c.14186A>C: Uncertain function
  • c.14197T>G: Uncertain function
  • c.14201G>A: Uncertain function
  • c.14209C>T: Malignant Hyperthermia associated
  • c.14210G>A: Malignant Hyperthermia associated
  • c.14270G>A: Uncertain function
  • c.14364+1G>T: Uncertain function
  • c.14387A>G: Uncertain function
  • c.14422_14423delinsAA: Uncertain function
  • c.14424C>A: Uncertain function
  • c.14449A>T: Uncertain function
  • c.14458G>A: Uncertain function
  • c.14458G>T: Uncertain function
  • c.14471T>C: Uncertain function
  • c.14477C>T: Malignant Hyperthermia associated
  • c.14497C>T: Malignant Hyperthermia associated
  • c.14509C>G: Uncertain function
  • c.14510delA: Normal function
  • c.14512C>G: Malignant Hyperthermia associated
  • c.14524G>A: Uncertain function
  • c.14539G>C: Malignant Hyperthermia associated
  • c.14545G>A: Malignant Hyperthermia associated
  • c.14558C>T: Uncertain function
  • c.14567C>G: Uncertain function
  • c.14581C>T: Uncertain function
  • c.14582G>A: Uncertain function
  • c.14627A>G: Malignant Hyperthermia associated
  • c.14639T>C: Uncertain function
  • c.14678G>A: Uncertain function
  • c.14680G>A: Uncertain function
  • c.14693T>C: Uncertain function
  • c.14782A>G: Uncertain function
  • c.14803G>A: Malignant Hyperthermia associated
  • c.14813T>C: Uncertain function
  • c.14814C>G: Uncertain function
  • c.14817C>A: Uncertain function
  • c.14818G>A: Uncertain function
  • c.14825G>T: Uncertain function
  • c.14879T>A: Uncertain function
  • c.14918C>T: Malignant Hyperthermia associated
  • c.14968A>G: Uncertain function
  • c.15059G>C: Uncertain function
  • c.15060G>C: Uncertain function
What do these allele names mean?

RYR1 alleles are named by the underlying DNA variant rather than a star number. For example, c.61C>T describes a single base change at position 61 of the coding sequence.

DNA variant labels identify sequence differences. Their interpretation depends on the particular gene, the evidence, and the variants that can be assessed in your data. A DNA result does not directly measure enzyme activity.

The source of these definitions is listed above. Missing variants or incomplete coverage can leave a result indeterminate.

Medications with RYR1 information

This list contains 7 medications with RYR1 information from the sources shown below. Evidence and report eligibility differ by drug; each page explains its scope and limitations.

anesthetics →

Desflurane CPIC Enflurane CPIC Halothane CPIC Isoflurane CPIC Methoxyflurane CPIC Sevoflurane CPIC Succinylcholine CPIC / FDA

Brand products containing a RYR1-affected ingredient

These branded medications include at least one active ingredient whose metabolism or action involves RYR1. Each links to its full pharmacogenetic breakdown.

Anectine
succinylcholine
Quelicin
succinylcholine

References

  1. Primary source. CPIC: RYR1/CACNA1S and anesthetic agents. pmc.ncbi.nlm.nih.gov

Explore RYR1 in your report

A Gene2Rx report interprets supported variants in the context of your data and purchased report. Missing or uncertain calls may prevent an assessment.

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Informational only, not medical advice. The presence of a RYR1 pharmacogenetic guideline does not mean every patient needs to change their dose. Never start, stop, or change a medication without talking to your prescribing clinician.

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