ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)

dbSNP: rs1322278463
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250355 SCV001424683 likely pathogenic Patterned dystrophy of the retinal pigment epithelium 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.583C>T in the PRPH2 gene has been previously studied(PMID 25082885). 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 (CM149323). It is present in gnomAD browser (AF 0.00000407). This variant is not already listed in ClinVar. It is not enriched in the PRPH2 disease cohort. We invoked ACMG criteria [PVS1, PM2] and classified NM_000322.4:c.583C>T in the PRPH2 gene as a Likely Pathogenic mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001381221 SCV001579525 pathogenic PRPH2-related disorder 2023-12-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg195*) 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 present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with PRPH2-related conditions (PMID: 25082885). ClinVar contains an entry for this variant (Variation ID: 973722). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002290662 SCV002581448 pathogenic Patterned macular dystrophy 1 2022-07-11 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004814021 SCV005071983 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001530355 SCV005079802 pathogenic not provided 2023-05-15 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); This variant is associated with the following publications: (PMID: 25082885, 34411390, 32531846)
Leiden Open Variation Database RCV001530355 SCV001745153 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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