ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)

dbSNP: rs986748364
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199523 SCV001162619 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Blueprint Genetics RCV001073873 SCV001239437 likely pathogenic Retinal dystrophy 2018-07-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093085 SCV001249902 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001202274 SCV001373382 pathogenic PRPH2-related disorder 2023-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser218*) 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 variant has not been reported in the literature in individuals affected with PRPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 813079). For these reasons, this variant has been classified as Pathogenic.
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250377 SCV001424712 likely pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.653C>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.653C>A in the PRPH2 gene as a Likely Pathogenic mutation.
GeneDx RCV001093085 SCV002503972 pathogenic not provided 2022-03-29 criteria provided, single submitter clinical testing Nonsense 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); Identified in an individual with pattern dystrophy in published literature (Reeves 2020); This variant is associated with the following publications: (PMID: 32531846)
Leiden Open Variation Database RCV001093085 SCV001745177 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: Manon Peeters.

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