ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.336G>A (p.Pro112=)

gnomAD frequency: 0.00036  dbSNP: rs371365341
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366002 SCV000376712 likely benign Maturity-onset diabetes of the young type 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago RCV000504238 SCV000595126 likely benign not specified 2016-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000861915 SCV000722792 likely benign not provided 2019-07-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27659712, 30708140)
Labcorp Genetics (formerly Invitae), Labcorp RCV000861915 SCV001002332 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000504238 SCV001880079 benign not specified 2020-09-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002328811 SCV002601576 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs371365341 with MODY3.
Ambry Genetics RCV002328811 SCV002615526 likely benign Maturity onset diabetes mellitus in young 2016-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV000861915 SCV004010201 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing HNF1A: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003957594 SCV004784126 likely benign HNF1A-related disorder 2019-12-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV000861915 SCV005218932 likely benign not provided criteria provided, single submitter not provided

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.