ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)

dbSNP: rs1554269046
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389849 SCV001591367 pathogenic PRPH2-related disorder 2022-02-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076073). This premature translational stop signal has been observed in individual(s) with macular or cone/cone-rod dystrophy (PMID: 29555955). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser231*) 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, 25675413, 26061163, 27365499, 29555955).
MGZ Medical Genetics Center RCV002290706 SCV002579304 likely pathogenic Patterned macular dystrophy 1 2021-09-06 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002468637 SCV002765083 pathogenic Retinitis pigmentosa 7 2022-11-28 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PS4_MOD, PM2_SUP
Institute of Human Genetics, University of Leipzig Medical Center RCV003388844 SCV004100781 pathogenic Pigmentary retinal dystrophy 2023-10-20 criteria provided, single submitter clinical testing Criteria applied: PVS1,PS4_MOD,PM2_SUP
Leiden Open Variation Database RCV001530322 SCV001745099 pathogenic not provided 2021-02-14 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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