ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.423C>A (p.Tyr141Ter)

dbSNP: rs2152010946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873753 SCV002156062 pathogenic PRPH2-related disorder 2022-07-19 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: 1175247). This variant has not been reported in the literature in individuals affected with PRPH2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr141*) 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).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815554 SCV005070706 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001530289 SCV001745049 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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