rs768113210

Description

This sequence change affects codon 1048 of the TRPM1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TRPM1 protein. This variant is present in population databases (rs768113210, ExAC 0.01%). This variant has not been reported in the literature in individuals affected with TRPM1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.