ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.2426G>A (p.Gly809Glu)

dbSNP: rs1060500140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526385 SCV000541658 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-10-31 criteria provided, single submitter clinical testing 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 C65"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RYR2-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant does not occur within one of the three regions of the RYR2 gene (N-terminal domain, central domain or channel region) where other pathogenic variants have been reported to cluster (PMID: 19926015). This sequence change replaces glycine with glutamic acid at codon 809 of the RYR2 protein (p.Gly809Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid.

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