ClinVar Miner

Submissions for variant NM_000322.5(PRPH2):c.450T>A (p.Cys150Ter)

dbSNP: rs1761908800
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239630 SCV001412516 pathogenic PRPH2-related disorder 2019-10-10 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Cys150*) in the PRPH2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PRPH2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in PRPH2 are known to be pathogenic (PMID: 8111389, 8485576, 8675410, 16916875, 17504850, 25675413, 26061163, 27365499, 29555955).

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