ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.426G>C (p.Glu142Asp)

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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 RCV003028506 SCV003313971 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2022-02-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 145 of the POR protein (p.Glu145Asp). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with POR-related conditions. This variant is not present in population databases (gnomAD no frequency).

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