ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.96dup (p.Ile33fs)

dbSNP: rs61755768
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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 RCV001857418 SCV002243771 pathogenic PRPH2-related disorder 2021-07-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 98723). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ile33Hisfs*12) 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 (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with PRPH2-related conditions (PMID: 8675410).
Retina International RCV000085037 SCV000117173 not provided not provided no assertion provided not provided
Leiden Open Variation Database RCV000085037 SCV001745033 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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