ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.11432A>C (p.Gln3811Pro)

dbSNP: rs1553313890
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002529913 SCV000760631 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2017-10-03 criteria provided, single submitter clinical testing 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. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RYR2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 3811 of the RYR2 protein (p.Gln3811Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline. 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).

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