rs199546503

Description

This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 517 of the FGD4 protein (p.Gln517Arg). This variant is present in population databases (rs199546503, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with FGD4-related conditions. ClinVar contains an entry for this variant (Variation ID: 995365). 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 C35"). 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.