Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001857348 | SCV002231289 | pathogenic | PRPH2-related disorder | 2022-03-10 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly167 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16024869, 23591405, 25324289, 28559085). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 13169). This missense change has been observed in individuals with autosomal dominant pattern dystrophy (PMID: 28559085). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 167 of the PRPH2 protein (p.Gly167Asp). |
| Gene |
RCV000084977 | SCV005325361 | pathogenic | not provided | 2024-03-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11673412, 8485574, 28559085, 31063015, 34411390, 9886097, 8045710, 7493155) |
| OMIM | RCV000014055 | SCV000034302 | pathogenic | Patterned macular dystrophy 1 | 1993-03-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000084977 | SCV000117113 | not provided | not provided | no assertion provided | not provided | ||
| Leiden Open Variation Database | RCV000084977 | SCV001744955 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters. |