ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.205del (p.Val69fs)

dbSNP: rs1761916286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090589 SCV001246207 pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388980 SCV001590175 pathogenic PRPH2-related disorder 2022-07-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 870900). This premature translational stop signal has been observed in individual(s) with autosomal dominant retinitis pigmentosa (PMID: 25447119). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val69Cysfs*30) 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). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001090589 SCV001745062 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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