Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724301 | SCV000228901 | pathogenic | not provided | 2014-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724301 | SCV001198576 | pathogenic | not provided | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 181 of the RHO protein (p.Glu181Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 1833777, 29068140). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 196282). 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 with a positive predictive value of 80%. Experimental studies have shown that this missense change affects RHO function (PMID: 8253795, 19913029). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074893 | SCV001240497 | pathogenic | Retinal dystrophy | 2019-08-13 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000177081 | SCV001440598 | likely pathogenic | Retinitis pigmentosa 4 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Centre for Genomic Medicine, |
RCV000177081 | SCV001443228 | pathogenic | Retinitis pigmentosa 4 | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000724301 | SCV001962524 | pathogenic | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | RHO: PP1:Strong, PM1, PM2, PS4:Moderate, PS3:Supporting |
Dept Of Ophthalmology, |
RCV001074893 | SCV004705660 | likely pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
NIHR Bioresource Rare Diseases, |
RCV000504731 | SCV000598752 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000177081 | SCV000804694 | pathogenic | Retinitis pigmentosa 4 | 2016-09-01 | no assertion criteria provided | clinical testing | |
Department of Clinical Genetics, |
RCV000504731 | SCV000926675 | pathogenic | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Sharon lab, |
RCV000504731 | SCV001161245 | likely pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research | |
Clinical Genetics, |
RCV000724301 | SCV001978866 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000724301 | SCV001979581 | pathogenic | not provided | no assertion criteria provided | clinical testing |