rs775810789

Description

This sequence change replaces arginine with histidine at codon 984 of the TRPM1 protein (p.Arg984His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs775810789, ExAC 0.006%). This missense change has been observed in individual(s) with congenital stationary night blindness (PMID: 25307992). ClinVar contains an entry for this variant (Variation ID: 812113). 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 disruptive. 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.