Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NEI Ophthalmic Genomics Laboratory, |
RCV001250310 | SCV001424623 | likely pathogenic | Stargardt disease | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.642C>A 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.642C>A in the PRPH2 gene as a Likely Pathogenic mutation. |
Labcorp Genetics |
RCV001387192 | SCV001587755 | pathogenic | PRPH2-related disorder | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys214*) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485575, 8485576, 8675410, 16916875, 17504850, 22863181, 25675413, 26061163, 27365499, 29555955, 33546218). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal dominant PRPH2-related conditions (PMID: 32037395, 32531846). ClinVar contains an entry for this variant (Variation ID: 973714). For these reasons, this variant has been classified as Pathogenic. |
Leiden Open Variation Database | RCV001530363 | SCV001745167 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |