ClinVar

Description

The F176L variant in the SNTA1 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The F176L variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. In silico analysis predicts F176L is possibly damaging to the protein structure/function. The F176L 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. However, no mutations in nearby residues have been reported in association with LQTS, suggesting that this region of the protein may be tolerant to change. With the clinical and molecular information available at this time, we cannot definitively determine if F176L is a disease-causing mutation or a rare benign variant. The pathogenic role for this variant would be further supported if it occurred de novo in an individual or if it co-segregates with an LQTS phenotype in a family. The variant is found in LQT panel(s).