ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.6310C>T (p.Arg2104Cys) (rs541757529)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655581 SCV000777512 uncertain significance RYR1-Related Disorders 2018-12-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2104 of the RYR1 protein (p.Arg2104Cys). The arginine residue is moderately 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 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.

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