Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001046921 | SCV001210846 | pathogenic | PRPH2-related disorder | 2023-07-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro216 amino acid residue in PRPH2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1684223, 12925772, 28076437). 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: 844144). This missense change has been observed in individuals with autosomal dominant retinitis pigmentosa (PMID: 19038374; Invitae). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 216 of the PRPH2 protein (p.Pro216Ala). |
| Blueprint Genetics | RCV001074972 | SCV001240579 | likely pathogenic | Retinal dystrophy | 2017-09-24 | criteria provided, single submitter | clinical testing | |
| Leiden Open Variation Database | RCV001530366 | SCV001745171 | likely pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |