ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.708C>A (p.Tyr236Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003757811 SCV004459391 pathogenic PRPH2-related disorder 2023-04-26 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with macular and/or pattern dystrophy (PMID: 22863181, 25082885). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr236*) 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.

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