ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.374G>A (p.Arg125Gln)

gnomAD frequency: 0.00003  dbSNP: rs104894154
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376810 SCV001573981 pathogenic not provided 2023-12-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 125 of the CYP17A1 protein (p.Arg125Gln). This variant is present in population databases (rs104894154, gnomAD 0.004%). This missense change has been observed in individual(s) with 17-alpha-hydroxylase deficiency (PMID: 16849412, 22954317, 29858860). 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: 1803). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects CYP17A1 function (PMID: 16849412). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001826403 SCV004215392 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2023-09-20 criteria provided, single submitter clinical testing
OMIM RCV000001876 SCV000022032 pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete 2006-10-01 no assertion criteria provided literature only
Natera, Inc. RCV001826403 SCV002087902 likely pathogenic Deficiency of steroid 17-alpha-monooxygenase 2020-08-12 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.