ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)

dbSNP: rs1242862941
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073624 SCV001239175 likely pathogenic Retinal dystrophy 2019-07-19 criteria provided, single submitter clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV001250293 SCV001424606 likely pathogenic Stargardt disease 2020-01-07 criteria provided, single submitter clinical testing The variant NM_000322.4:c.246C>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.246C>A in the PRPH2 gene as a Likely Pathogenic mutation.
Invitae RCV001862510 SCV002130486 pathogenic PRPH2-related disorder 2023-08-11 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 32531846). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 865978). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys82*) 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).
Leiden Open Variation Database RCV001530300 SCV001745065 likely 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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