ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.6020G>T (p.Cys2007Phe)

dbSNP: rs1251250228
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002554629 SCV001236955 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-11-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 864449). This variant has not been reported in the literature in individuals affected with RYR2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 2007 of the RYR2 protein (p.Cys2007Phe). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65").

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