ClinVar Miner

Submissions for variant NM_000941.3(POR):c.859G>C (p.Ala287Pro) (rs121912974)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519572 SCV000616830 pathogenic not provided 2018-10-12 criteria provided, single submitter clinical testing The A287P missense variant in the POR gene is one of them most common variants identified in patients with autosomal recessive Antley-Bixler syndrome (Jin et al., 2015; Krone et al., 2012; Fluck et al., 2004). The A287P variant is observed in 24/66278 (0.034%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). The A287P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position in the FAD-binding FR-type domain that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Functional studies confirm that this variant disrupts flavin reduction by NADPH and creates deficiencies in FAD and FMN binding (Jin et al., 2015; McCammon et al., 2016)
OMIM RCV000018401 SCV000038683 pathogenic Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 2005-05-01 no assertion criteria provided literature only
OMIM RCV000170457 SCV000222889 pathogenic Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2005-05-01 no assertion criteria provided literature only
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000018401 SCV001167495 uncertain significance Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis no assertion criteria provided research

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