ClinVar

Description

ClinVar contains an entry for this variant (Variation ID: 802008). 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 RHO protein function. This variant disrupts the p.Val345 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 24938718; RQ863805). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 30029497; Invitae). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 345 of the RHO protein (p.Val345Ala). This variant is not present in population databases (gnomAD no frequency).