ClinVar Miner

Submissions for variant NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp)

dbSNP: rs1555518481
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
Athena Diagnostics Inc RCV000517382 SCV000613668 uncertain significance not specified 2017-03-16 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000995564 SCV001149804 pathogenic Apparent mineralocorticoid excess 2018-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001570971 SCV001795349 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing Observed in an unrelated patient with mineralocorticoid excess in published literature; no detailed information available (Rodriguez-Flores et al., 2014); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 29229831, 25593612, 24123366)

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.