ClinVar Miner

Submissions for variant NM_000102.4(CYP17A1):c.177dup (p.Tyr60fs)

dbSNP: rs1402132413
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079112 SCV003459894 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2152094). This premature translational stop signal has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 29595516). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr60Ilefs*29) in the CYP17A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP17A1 are known to be pathogenic (PMID: 10720067, 14747197, 17192295, 20197673, 24140098).
Baylor Genetics RCV004572742 SCV005059306 pathogenic Deficiency of steroid 17-alpha-monooxygenase 2024-01-03 criteria provided, single submitter 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.