ClinVar Miner

Submissions for variant NM_000540.2(RYR1):c.8752C>G (p.Arg2918Gly) (rs571701341)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000655565 SCV000777496 uncertain significance RYR1-Related Disorders 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2918 of the RYR1 protein (p.Arg2918Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs571701341, ExAC 0.006%). This variant has not been reported in the literature in individuals with RYR1-related disease. ClinVar contains an entry for this variant (Variation ID: 544428). 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.
PreventionGenetics RCV000721717 SCV000852846 uncertain significance not provided 2013-10-28 criteria provided, single submitter clinical testing

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