ClinVar Miner

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

dbSNP: rs1060500140
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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 RCV002526385 SCV000541658 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-10-31 criteria provided, single submitter clinical testing 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. 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). 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. 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 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.
All of Us Research Program, National Institutes of Health RCV004000612 SCV004833268 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2023-08-15 criteria provided, single submitter clinical testing

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