ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)

gnomAD frequency: 0.00005  dbSNP: rs202111332
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001867581 SCV002128094 uncertain significance RYR1-related disorder 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2385 of the RYR1 protein (p.Arg2385Cys). This variant is present in population databases (rs202111332, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with RYR1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV002478172 SCV002786138 uncertain significance Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome 2021-09-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003132578 SCV003814982 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing

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