ClinVar Miner

Submissions for variant NM_001232.4(CASQ2):c.281T>C (p.Val94Ala)

gnomAD frequency: 0.00001  dbSNP: rs755766840
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002562753 SCV002215770 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 1 2024-07-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 94 of the CASQ2 protein (p.Val94Ala). This variant is present in population databases (rs755766840, gnomAD 0.003%). 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: 1435834). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CASQ2 protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV004042934 SCV003987947 uncertain significance Cardiovascular phenotype 2024-08-11 criteria provided, single submitter clinical testing The p.V94A variant (also known as c.281T>C), located in coding exon 2 of the CASQ2 gene, results from a T to C substitution at nucleotide position 281. The valine at codon 94 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Genome-Nilou Lab RCV003339842 SCV004048964 uncertain significance Catecholaminergic polymorphic ventricular tachycardia 2 2023-04-11 criteria provided, single submitter clinical testing

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