rs1555419893

Description

The A914E variant in the TRPM1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A914E variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A914E 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A914E as a variant of uncertain significance.