ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.522G>A (p.Trp174Ter)

dbSNP: rs1064793237
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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 RCV001381222 SCV001579526 pathogenic PRPH2-related disorder 2021-02-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955). This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 25412400). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp174*) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product.
Leiden Open Variation Database RCV001530301 SCV001745067 pathogenic not provided 2021-04-06 no assertion criteria provided curation Curator: Global Variome, with Curator vacancy. Submitters to LOVD: LOVD, Manon Peeters.

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