ClinVar Miner

Submissions for variant NM_001395413.1(POR):c.236A>T (p.Asn79Ile)

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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 RCV003516649 SCV004300381 uncertain significance Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 2023-08-09 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt POR protein function. This variant has not been reported in the literature in individuals affected with POR-related conditions. This variant is present in population databases (rs782037392, gnomAD 0.003%). This sequence change replaces asparagine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 82 of the POR protein (p.Asn82Ile).

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