Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genomic Medicine, |
RCV001265173 | SCV001443200 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880087 | SCV002237788 | pathogenic | not provided | 2021-06-06 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant affects RHO protein function (PMID: 25359768). For these reasons, this variant has been classified as Pathogenic. 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 has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 25359768). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 984775). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 55 of the RHO protein (p.Asn55Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |