ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1066C>T (p.Gln356Ter) (rs146124466)

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
Counsyl RCV000050222 SCV000790567 pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-03-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711392 SCV000841755 pathogenic not provided 2017-10-11 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763178 SCV000893776 pathogenic Deficiency of steroid 11-beta-monooxygenase; Hyperaldosteronism, familial, type I 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000711392 SCV000957759 pathogenic not provided 2019-08-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln356*) in the CYP11B1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs146124466, ExAC 0.09%). This variant has been observed in the homozygous or compound heterozygous state in several individuals with CYP11B1-related conditions (PMID: 8506298, 27821898, 24022297, 12966519). ClinVar contains an entry for this variant (Variation ID: 56830). Loss-of-function variants in CYP11B1 are known to be pathogenic (PMID: 8506298, 26476331). For these reasons, this variant has been classified as Pathogenic.
Pediatric Endocrinology Laboratory; Christian Albrechts University of Kiel RCV000050222 SCV000082801 not provided Deficiency of steroid 11-beta-monooxygenase no assertion provided not provided

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.