ClinVar

Description

Experimental studies have shown that this missense change affects RHO function (PMID: 28524165). 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. 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. ClinVar contains an entry for this variant (Variation ID: 636082). This variant has not been reported in the literature in individuals affected with RHO-related conditions. This variant is present in population databases (rs137883686, gnomAD 0.01%). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 68 of the RHO protein (p.Leu68Arg).