ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.611_626del (p.Tyr204fs)

dbSNP: rs1800116472
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Molecular Genetics, University of Zurich RCV001353039 SCV001548156 likely pathogenic Patterned macular dystrophy 1 2021-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002547575 SCV003313180 pathogenic PRPH2-related disorder 2022-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr204Serfs*47) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1048171). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 33546218).

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