ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1033del (p.Val345fs)

gnomAD frequency: 0.00002  dbSNP: rs1563433095
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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 RCV001920623 SCV002186336 pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2021-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val348Serfs*4) in the POR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POR are known to be pathogenic (PMID: 14758361, 20732302, 21741353). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POR-related conditions. For these reasons, this variant has been classified as Pathogenic.

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