rs199625867

Description

This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 171 of the SAMD11 protein (p.Ser171Leu). This variant is present in population databases (rs199625867, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with SAMD11-related conditions. ClinVar contains an entry for this variant (Variation ID: 950252). 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.