ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.128A>G (p.Lys43Arg)

gnomAD frequency: 0.00001  dbSNP: rs1163471411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002552134 SCV002139353 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-02-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 43 of the CASQ2 protein (p.Lys43Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CASQ2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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