ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) (rs1563435458)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704080 SCV000833014 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2018-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala541Leufs*50) in the POR 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 POR-related disease. 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 POR are known to be pathogenic (PMID: 14758361, 20732302, 21741353). For these reasons, this variant has been classified as Pathogenic.

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