Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002513033 | SCV003439415 | pathogenic | PRPH2-related disorder | 2023-02-19 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the PRPH2 mRNA. The next in-frame methionine is located at codon 23. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with clinical features of autosomal dominant PRPH2-related conditions (PMID: 9338584, 25472526, 29555955; Invitae). This variant is also known as M1T. ClinVar contains an entry for this variant (Variation ID: 13175). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV002508120 | SCV000034308 | pathogenic | Vitelliform macular dystrophy 3 | 1997-01-01 | no assertion criteria provided | literature only | |
Retina International | RCV000084961 | SCV000117097 | not provided | not provided | no assertion provided | not provided | ||
Leiden Open Variation Database | RCV000084961 | SCV001745021 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters. |