ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)

dbSNP: rs372624970
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
GeneDx RCV002265106 SCV002546652 uncertain significance not provided 2022-01-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies suggest this variant results in impairment of HNF1A function, however additional studies are needed to validate the functional effect of this variant in vivo (Althari et al., 2020); Identified in a patient with type 2 diabetes in published literature, although additional clinical information was not included (Bansal et al., 2017); Reported as part of a large study of dyslipidemia and metabolic disorders, patient specific information was not provided (Dron et al., 2020); This variant is associated with the following publications: (PMID: 21224407, 29207974, 32041611, 32910913)
Fulgent Genetics, Fulgent Genetics RCV002502081 SCV002780497 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 2021-12-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV002265106 SCV005620620 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Assessment of experimental evidence regarding the effect of this variant on protein function is inconclusive (PMID: 32910913). This variant has been seen where an alternate explanation for disease was also identified, suggesting this variant may not cause disease.

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.