ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.9859C>T (p.Arg3287Cys) (rs201276068)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655563 SCV000777494 uncertain significance RYR1-Related Disorders 2018-01-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 3287 of the RYR1 protein (p.Arg3287Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs201276068, ExAC 0.08%). This variant has not been reported in the literature in individuals with RYR1-related disease. 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: "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.
PreventionGenetics RCV000721760 SCV000852895 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing

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