ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.609_625del (p.Tyr204fs)

dbSNP: rs281865372
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198961 SCV001369956 pathogenic Pigmentary retinal dystrophy 2018-11-13 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001854489 SCV002239052 pathogenic PRPH2-related disorder 2024-01-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr204Profs*8) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with macular dystrophy (PMID: 10627133). This variant is also known as 857del17. ClinVar contains an entry for this variant (Variation ID: 98683). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084993 SCV000117129 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000084993 SCV001744973 pathogenic not provided 2021-07-02 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: Julia Lopez, Manon Peeters.

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