rs556799723

Description

This sequence change replaces valine with glycine at codon 1511 of the TRPM1 protein (p.Val1511Gly). The valine residue is moderately conserved and there is a moderate physicochemical difference between valine and glycine. This variant is present in population databases (rs556799723, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with TRPM1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.