ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.38T>G (p.Phe13Cys)

dbSNP: rs878854155
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002518316 SCV000285725 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2015-12-18 criteria provided, single submitter clinical testing In summary, this 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 phenylalanine with cysteine at codon 13 of the RYR2 protein (p.Phe13Cys). The phenylalanine residue is weakly conserved and there is a large physicochemical difference between phenylalanine and cysteine.

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