ClinVar Miner

Submissions for variant NM_000497.4(CYP11B1):c.1179_1180dup (p.Asn394fs)

dbSNP: rs758714890
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001909041 SCV002172703 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn394Argfs*37) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). This variant is present in population databases (rs758714890, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive adrenal hyperplasia (PMID: 1430088). This variant is also known as a 2-bp insertion at codon 394. ClinVar contains an entry for this variant (Variation ID: 1403418). For these reasons, this variant has been classified as Pathogenic.
Clinical Biochemistry Laboratory, Health Services Laboratory RCV002279773 SCV004190272 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2023-11-20 criteria provided, single submitter clinical testing ACMG:PVS1 PM2 PP3
Baylor Genetics RCV002279773 SCV005058663 pathogenic Deficiency of steroid 11-beta-monooxygenase 2024-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005042487 SCV005675067 pathogenic Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldosteronism 2024-06-18 criteria provided, single submitter clinical testing
OMIM RCV002279773 SCV000021384 pathogenic Deficiency of steroid 11-beta-monooxygenase 1992-11-01 no assertion criteria provided literature only

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.