ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.1444G>A (p.Ala482Thr)

gnomAD frequency: 0.00005  dbSNP: rs72557947
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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 RCV001990946 SCV002261096 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2021-11-30 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 485 of the POR protein (p.Ala485Thr). This variant is present in population databases (rs72557947, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with POR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on POR function (PMID: 18230729, 18551037). 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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