Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001247906 | SCV001421358 | pathogenic | PRPH2-related disorder | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Pro216Glyfs*84) in the PRPH2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 131 amino acid(s) of the PRPH2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of inherited retinal dystrophy (Invitae). This variant disrupts a region of the PRPH2 protein in which other variant(s) (p.Leu307Argfs*17) have been determined to be pathogenic (PMID: 8019570, 22183351, 24265693). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| NEI Ophthalmic Genomics Laboratory, |
RCV001250374 | SCV001424707 | likely pathogenic | Retinitis pigmentosa | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.646_649delinsGG in the PRPH2 gene has not been reported to our knowledge . We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is not listed in dbSNP and/or HGMD. It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2] and classified NM_000322.4:c.646_649delinsGG in the PRPH2 gene as a Likely Pathogenic mutation. |
| Leiden Open Variation Database | RCV001530367 | SCV001745172 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |
| Institute of Human Genetics, |
RCV004814016 | SCV005069891 | pathogenic | Retinal dystrophy | 2021-01-01 | no assertion criteria provided | clinical testing |