rs748246121

Description

This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1422 of the TRPM1 protein (p.Arg1422Leu). This variant is present in population databases (rs748246121, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with TRPM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 937605). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.