ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.884A>G (p.Asn295Ser)

gnomAD frequency: 0.00001  dbSNP: rs781565627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002557807 SCV002195996 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2021-04-04 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 295 of the CASQ2 protein (p.Asn295Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs781565627, ExAC 0.006%). This variant has not been reported in the literature in individuals with CASQ2-related conditions. 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 C0"). 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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