rs749005506

Description

This sequence change replaces glutamine with lysine at codon 374 of the SAMD11 protein (p.Gln374Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. While this variant is present in population databases (rs749005506), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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.