Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001869193 | SCV002268373 | pathogenic | PRPH2-related disorder | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 218 of the PRPH2 protein (p.Ser218Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa and pattern dystrophy (PMID: 30718709, 34240658; Invitae). ClinVar contains an entry for this variant (Variation ID: 636194). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Department of Clinical Genetics, |
RCV000787870 | SCV000926886 | uncertain significance | Retinitis pigmentosa | 2018-04-01 | no assertion criteria provided | research | |
Leiden Open Variation Database | RCV001530370 | SCV001745176 | uncertain significance | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |