rs137853317

Description

This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 196 of the FLNA protein (p.Arg196Trp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of FLNA-related conditions (PMID: 12612583, 15194946, 17264970; Invitae). ClinVar contains an entry for this variant (Variation ID: 11772). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt FLNA protein function. For these reasons, this variant has been classified as Pathogenic.