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
Labcorp Genetics (formerly Invitae), Labcorp RCV002526390 SCV000541706 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2016-12-19 criteria provided, single submitter clinical testing 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. 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 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 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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