ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.1283C>T (p.Pro428Leu)

dbSNP: rs104894145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001220851 SCV001392863 pathogenic not provided 2024-01-26 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 428 of the CYP17A1 protein (p.Pro428Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with 17-alpha-hydroxylase deficiency (PMID: 14671162, 14715827, 15844475). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1799). 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: 14715827, 15844475). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001831506 SCV005059304 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2024-01-21 criteria provided, single submitter clinical testing
OMIM RCV000001872 SCV000022028 pathogenic 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete 2003-12-01 no assertion criteria provided literature only
Natera, Inc. RCV001831506 SCV002088521 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2020-01-22 no assertion criteria provided clinical testing

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