ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) (rs193922748)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000786736 SCV000925558 drug response desflurane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786737 SCV000925559 drug response enflurane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786738 SCV000925560 drug response halothane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786739 SCV000925561 drug response isoflurane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786740 SCV000925562 drug response methoxyflurane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786741 SCV000925563 drug response sevoflurane response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
PharmGKB RCV000786750 SCV000925572 drug response succinylcholine response - Toxicity/ADR reviewed by expert panel curation PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000119473 SCV000706045 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000119473 SCV000852334 likely pathogenic not provided 2013-11-19 criteria provided, single submitter clinical testing
Invitae RCV001238887 SCV001411720 pathogenic RYR1-Related Disorders 2019-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 44 of the RYR1 protein (p.Arg44Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with malignant hyperthermia susceptibility (MHS) and to segregate with MHS in a family (PMID: 12709367, 24433488). This variant has also been observed in combination with another RYR1 variant in an individual affected with central core disease (PMID: 21088110). ClinVar contains an entry for this variant (Variation ID: 133045). This variant has been reported to affect RYR1 protein function (PMID: 23459219). This variant disrupts the p.Arg44 amino acid residue in RYR1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16835904, 16917943). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119473 SCV000154380 not provided not provided no assertion provided not provided

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