ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1085G>A (p.Arg362His)

gnomAD frequency: 0.00001  dbSNP: rs752811843
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001211018 SCV001382539 pathogenic not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 362 of the CYP17A1 protein (p.Arg362His). This variant is present in population databases (rs752811843, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of congenital adrenal hyperplasia (PMID: 19728179, 29595516). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 941267). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt CYP17A1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CYP17A1 function (PMID: 24140098). This variant disrupts the p.Arg362 amino acid residue in CYP17A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 14715827, 17379008, 21340157). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001833850 SCV004215412 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-06-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833850 SCV002094327 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2020-09-15 no assertion criteria provided clinical testing

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