ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.245C>A (p.Ala82Asp)

dbSNP: rs2493245623
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468643 SCV004215423 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-04-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003553987 SCV004295710 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CYP17A1 function (PMID: 21550081). 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 expected to disrupt CYP17A1 protein function. This missense change has been observed in individual(s) with 17-alpha-hydroxylase deficiency (PMID: 21550081). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 82 of the CYP17A1 protein (p.Ala82Asp).

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