ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)

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
Integrated Genetics/Laboratory Corporation of America RCV000030518 SCV000053189 likely pathogenic Familial hypoplastic, glomerulocystic kidney 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787104 SCV000926033 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only
Broad Institute Rare Disease Group,Broad Institute RCV000787104 SCV001423107 uncertain significance Renal cysts and diabetes syndrome 2020-01-22 no assertion criteria provided curation The p.His336Tyr variant in HNF1B has been reported in at least 1 individual with Renal Cysts and Diabetes Syndrome in ClinVar (Variation ID: 377055), and has been identified in 0.02611% (9/34468) of Latino chromosomes and 0.0008848% (1/113020) of European (non-Finnish) chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs138986885). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a carrier frequency. Please note that for diseases with clinical variability, or reduced penetrance, pathogenic variants may be present at a low frequency in the general population. This variant has also been reported likely pathogenic in ClinVar (Variation ID: 36837). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.His336Tyr variant is uncertain. ACMG/AMP Criteria applied: PM2_Supporting, PP3 (Richards 2015).

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.