ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.2383C>T (p.Arg795Cys) (rs547608972)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662139 SCV000784482 uncertain significance Myopathy, Central Core 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662140 SCV000784483 uncertain significance Minicore myopathy 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662141 SCV000784484 uncertain significance Malignant hyperthermia, susceptibility to, 1 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662142 SCV000784485 uncertain significance Congenital myopathy with fiber type disproportion 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000530053 SCV000659888 uncertain significance RYR1-Related Disorders 2018-04-03 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 795 of the RYR1 protein (p.Arg795Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs547608972, ExAC 0.02%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 478212). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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