ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.100C>T (p.Leu34=)

gnomAD frequency: 0.00003  dbSNP: rs373201245
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
CeGaT Center for Human Genetics Tuebingen RCV000761950 SCV000892177 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001249062 SCV001423009 uncertain significance Maturity onset diabetes mellitus in young 2020-01-22 criteria provided, single submitter curation The c.100C>T (p.Leu34=) variant in HNF1B has not been previously reported in individuals with MODY and has been identified in 0.03% (8/30614) of South Asian chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs373201245). Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. Computational prediction tools, including splice predictors, and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.100C>T (p.Leu34=) variant is uncertain. ACMG/AMP Criteria applied: PM2, BP7, BP4 (Richards 2015).
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV001249062 SCV002754413 likely benign Maturity onset diabetes mellitus in young criteria provided, single submitter research HNF1B gene mutations are associated with early onset diabetes and pancreatic atrophy. It is also associated with multiple renal manifestations including renal cysts, Tubulointerstitial disease, glomerulocystic disease, renal hypoplasia, hypomagnesemia. However no sufficient evidence is found to ascertain the role of this particular variant rs373201245, yet.

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.