ClinVar Miner

Submissions for variant NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg)

dbSNP: rs1970727401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313441 SCV001503938 uncertain significance RYR1-related disorder 2020-10-15 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with RYR1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 3044 of the RYR1 protein (p.Cys3044Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
GeneDx RCV001732121 SCV001982381 likely pathogenic not provided 2021-08-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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