ClinVar Miner

Submissions for variant NM_000941.3(POR):c.214T>C (p.Phe72Leu) (rs782107314)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549415 SCV000646384 uncertain significance Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 2017-08-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 72 of the POR protein (p.Phe72Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs782107314, ExAC 0.002%). This variant has not been reported in the literature in individuals with POR-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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