ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11986G>A (p.Gly3996Ser)

dbSNP: rs1060500160
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002526390 SCV000541706 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-12-19 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. 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 sequence change replaces glycine with serine at codon 3996 of the RYR2 protein (p.Gly3996Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine.

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