ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1501+6C>T

gnomAD frequency: 0.00035  dbSNP: rs374306837
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504118 SCV000595129 uncertain significance not specified 2016-02-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000763798 SCV000894712 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 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000983927 SCV001131976 likely benign not provided 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000983927 SCV001772737 likely benign not provided 2021-03-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002329195 SCV002601721 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 rs374306837 with MODY3.

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