rs786205792

Description

p.Trp361Ser (W361S) TGG>TCG: c.1082 G>C in exon 11 of the CASQ2 gene (NM_001232.3) The W361S variant has not been published as a mutation or as a benign polymorphism. The W361S variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The W361S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with arrhythmia, suggesting this region of the protein may be tolerant to change. Therefore, this variant is a strong candidate for a pathogenic mutation. However, the possibility that it is a benign variant cannot be excluded. The variant is found in ARRHYTHMIA panel(s).