ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)

dbSNP: rs946911897
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002564080 SCV001417205 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2022-06-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 109 of the CASQ2 protein (p.Asp109Val). 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. ClinVar contains an entry for this variant (Variation ID: 968797). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002499412 SCV002816071 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1; Catecholaminergic polymorphic ventricular tachycardia 2 2021-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003339562 SCV004048961 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353260 SCV004053079 uncertain significance Cardiovascular phenotype 2023-08-10 criteria provided, single submitter clinical testing The p.D109V variant (also known as c.326A>T), located in coding exon 3 of the CASQ2 gene, results from an A to T substitution at nucleotide position 326. The aspartic acid at codon 109 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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