ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.1597C>T (p.Arg533Cys) (rs193922768)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802081 SCV000941895 pathogenic RYR1-Related Disorders 2019-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 533 of the RYR1 protein (p.Arg533Cys). The arginine residue is highly 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 to segregate with malignant hyperthermia in a family (PMID: 12709367). ClinVar contains an entry for this variant (Variation ID: 133102). This variant has been reported to affect RYR1 protein function (PMID: 23459219). This variant disrupts the p.Arg533 amino acid residue in RYR1. Other variants that disrupt this residue have been observed in individuals with RYR1-related conditions (PMID: 20681998), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic.
Leiden Muscular Dystrophy (RYR1) RCV000119577 SCV000154484 not provided not provided no assertion provided not provided

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