Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001315051 | SCV001505607 | pathogenic | PRPH2-Related Disorders | 2023-02-11 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 153 of the PRPH2 protein (p.Lys153Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with clinical features of autosomal dominant retinitis pigmentosa (PMID: 8994365, 19038374; Invitae). ClinVar contains an entry for this variant (Variation ID: 98669). 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 PRPH2 protein function. For these reasons, this variant has been classified as Pathogenic. |
Institute of Medical Genetics and Applied Genomics, |
RCV003238719 | SCV003936110 | likely pathogenic | Retinitis pigmentosa | 2023-07-04 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000084973 | SCV000117109 | not provided | not provided | no assertion provided | not provided | ||
Leiden Open Variation Database | RCV000084973 | SCV001745136 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Manon Peeters, Sandro Banfi. |
Clinical Genetics, |
RCV000084973 | SCV001921896 | likely pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000084973 | SCV001951575 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |