ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter)

dbSNP: rs1800111659
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001199526 SCV001162622 pathogenic Cone-rod dystrophy 2020-01-09 criteria provided, single submitter research
CeGaT Center for Human Genetics Tuebingen RCV001093084 SCV001249900 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002551709 SCV003227878 pathogenic PRPH2-related disorder 2022-08-05 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 813081). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp246*) 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). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004818152 SCV005069114 pathogenic Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing

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