ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.-119G>A

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
Fulgent Genetics, Fulgent Genetics RCV005006521 SCV005632337 uncertain significance Diabetes mellitus type 1; Type 1 diabetes mellitus 20; Maturity-onset diabetes of the young type 3; Type 2 diabetes mellitus; Hepatic adenomas, familial; Nonpapillary renal cell carcinoma 2024-06-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753909 SCV005347337 uncertain significance HNF1A-related disorder 2024-03-04 no assertion criteria provided clinical testing The HNF1A c.-119G>A variant is located in the 5' untranslated region. This variant has been reported in a family with maturity onset diabetes of the young (MODY), but the clinical significance is inconclusive (Godart et al. 2000. PubMed ID: 10649494). In the same study, a small deletion variant at the same nucleotide position designated c.-119delG has been reported to segregate with MODY in one family. The c.-119G>A variant is reported in 0.030% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.