rs575274130

Description

This sequence change replaces arginine with cysteine at codon 156 of the SAMD11 protein (p.Arg156Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs575274130, ExAC 0.09%). This variant has not been reported in the literature in individuals affected with SAMD11-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.