ClinVar

Description

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. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro171 amino acid residue in RHO. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1833777, 8253795, 29847639). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). ClinVar contains an entry for this variant (Variation ID: 866418). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 7987326, 11139241; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 171 of the RHO protein (p.Pro171Gln).