ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.8473G>T (p.Ala2825Ser)

dbSNP: rs1553274352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002528380 SCV000637624 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2017-04-25 criteria provided, single submitter clinical testing 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). 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 alanine with serine at codon 2825 of the RYR2 protein (p.Ala2825Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.

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