Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000084953 | SCV001167810 | pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 12566026, 32531846, 32037395) |
Blueprint Genetics | RCV001074733 | SCV001240326 | pathogenic | Retinal dystrophy | 2019-05-07 | criteria provided, single submitter | clinical testing | |
NEI Ophthalmic Genomics Laboratory, |
RCV001250275 | SCV001424587 | pathogenic | Stargardt disease | 2020-01-07 | criteria provided, single submitter | clinical testing | The variant NM_000322.4:c.113delG in the PRPH2 gene has been previously studied (PMID 12566026). We found this variant in 1 patient(s) in a PRPH2 cohort study (Reeves et al. 2020). This variant is listed in dbSNP and/or HGMD (rs61755769,CD030391). It is absent in gnomAD browser. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2, PP1-S] and classified NM_000322.4:c.113delG in the PRPH2 gene as a Pathogenic mutation. |
Invitae | RCV001851844 | SCV002238779 | pathogenic | PRPH2-related disorder | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly38Aspfs*4) 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 adult-onset foveomacular dystrophy (PMID: 12566026). This variant is also known as c.112delG. ClinVar contains an entry for this variant (Variation ID: 13177). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV002508122 | SCV000034310 | pathogenic | Vitelliform macular dystrophy 3 | 2003-02-01 | no assertion criteria provided | literature only | |
Retina International | RCV000084953 | SCV000117089 | not provided | not provided | no assertion provided | not provided | ||
Leiden Open Variation Database | RCV000084953 | SCV001745051 | pathogenic | not provided | 2021-04-06 | no assertion criteria provided | curation | Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters. |