rs745968834

Description

This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 479 of the SAMD11 protein (p.Val479Ile). This variant is present in population databases (rs745968834, gnomAD 0.09%). 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: 955365). 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.