Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073436 | SCV001238977 | likely pathogenic | Retinal dystrophy | 2019-02-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001090666 | SCV001246339 | pathogenic | not provided | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001090666 | SCV001377197 | pathogenic | not provided | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 216 of the RHO protein (p.Met216Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 8081400; Invitae). ClinVar contains an entry for this variant (Variation ID: 865880). 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 not expected to disrupt RHO protein function. Experimental studies have shown that this missense change affects RHO function (PMID: 30977563). This variant disrupts the p.Met216 amino acid residue in RHO. Other variant(s) that disrupt this residue have been observed in individuals with RHO-related conditions (PMID: 8081400, 22321012, 26962691), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Centre for Genomic Medicine, |
RCV001265200 | SCV001443238 | likely pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ocular Genomics Institute, |
RCV001265200 | SCV001573329 | likely pathogenic | Retinitis pigmentosa 4 | 2021-04-08 | criteria provided, single submitter | research | The RHO c.647T>A variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PS3, PM1. Based on this evidence we have classified this variant as Likely Pathogenic. |
Genomics England Pilot Project, |
RCV001542566 | SCV001760107 | likely pathogenic | Congenital stationary night blindness autosomal dominant 1 | no assertion criteria provided | clinical testing |