ClinVar Miner

Submissions for variant NM_000941.3(POR):c.1370G>A (p.Arg457His) (rs28931608)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000018407 SCV000828629 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2018-04-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 457 of the POR protein (p.Arg457His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs28931608, ExAC 0.1%). This variant has been reported in several individuals affected with POR Deficiency as homozygous or as compound heterozygous (PMID: 14758361, 20124576, 28841001, 15483095). ClinVar contains an entry for this variant (Variation ID: 16907). Experimental studies have shown that this missense change disrupts activity of several CYP450 drug-metabolizing enzymes, including CYP2C9, CYP3A, CYP2D6, CYP1A2 (PMID: 20940534, 22547083, 22252407, 18551037). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018406 SCV000038688 pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2006-03-15 no assertion criteria provided literature only
OMIM RCV000018407 SCV000038689 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2006-03-15 no assertion criteria provided literature only
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000018407 SCV000267459 likely pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2016-03-18 criteria provided, single submitter reference population

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