ClinVar Miner

Submissions for variant NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) (rs28934586)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001230 SCV000792483 likely pathogenic Deficiency of steroid 11-beta-monooxygenase 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000791917 SCV000931185 pathogenic not provided 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 448 of the CYP11B1 protein (p.Arg448His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs28934586, ExAC 0.003%). This variant has been observed o be homozygous or in combination with another CYP11B1 variant in individuals affected with adrenal hyperplasia (PMID: 16030166, 20024693, 27376433), and has been shown to segregate with disease in several families (PMID: 2022736). ClinVar contains an entry for this variant (Variation ID: 1171). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000001230 SCV000021380 pathogenic Deficiency of steroid 11-beta-monooxygenase 2005-09-01 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.