ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.7312A>G (p.Ile2438Val)

dbSNP: rs755072769
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528377 SCV000637606 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-08-05 criteria provided, single submitter clinical testing 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. This variant occurs 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 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 sequence change replaces isoleucine with valine at codon 2438 of the RYR2 protein (p.Ile2438Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine.

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