ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)

gnomAD frequency: 0.00001  dbSNP: rs757574765
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
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001249070 SCV001423018 uncertain significance Maturity-onset diabetes of the young type 3 2020-01-22 criteria provided, single submitter curation The p.Ala311Asp variant in HNF1A has been reported in 4 Chinese relatives from 1 family with only 1 individual with MODY and 1 European individual with MODY (PMID: 15657605, 18003757), and has been identified in 0.01% (2/16140) of East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs757574765). 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 and conservation analyses do not provide strong support for or against an impact to the protein. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PS4_supporting (Richards 2015).
PreventionGenetics, part of Exact Sciences RCV003399020 SCV004105692 uncertain significance HNF1A-related disorder 2023-06-20 criteria provided, single submitter clinical testing The HNF1A c.932C>A variant is predicted to result in the amino acid substitution p.Ala311Asp. This variant has been reported in several individuals with maturity onset diabetes of the young, type 3 (MODY3); however, pathogenicity of the variant was not conclusively established in any of the reports (Xu et al. 2005. PubMed ID: 15657605; Bellanné-Chantelot et al. 2008. PubMed ID: 18003757; Rama Chandran et al. 2018. PubMed ID: 30181854; Ma et al. 2020. PubMed ID: 32238361). This variant is reported in 0.012% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-121432185-C-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005012690 SCV005634482 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 2024-05-21 criteria provided, single submitter clinical testing

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.