ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.513dup (p.Arg172fs)

dbSNP: rs2152010904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001873750 SCV002236625 pathogenic PRPH2-related disorder 2024-01-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg172Serfs*5) 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 clinical features of PRPH2-related conditions (PMID: 29555955). ClinVar contains an entry for this variant (Variation ID: 1175216). For these reasons, this variant has been classified as Pathogenic.
Leiden Open Variation Database RCV001530225 SCV001744957 pathogenic not provided 2021-02-14 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitter to LOVD: LOVD.

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