ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.3961G>A (p.Gly1321Arg)

dbSNP: rs2148437710
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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 RCV002548095 SCV002133652 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-07-17 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1321 of the RYR2 protein (p.Gly1321Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RYR2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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