ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1323G>A (p.Thr441=)

gnomAD frequency: 0.00081  dbSNP: rs138996307
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030480 SCV000053150 likely benign Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
GeneDx RCV000862216 SCV000719379 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23348805)
Labcorp Genetics (formerly Invitae), Labcorp RCV000862216 SCV001002694 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000862216 SCV001146097 benign not provided 2018-11-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818193 SCV002066613 likely benign not specified 2017-07-05 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002326699 SCV002601583 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 rs138996307 with MODY3.
Ambry Genetics RCV002326699 SCV002690460 benign Maturity onset diabetes mellitus in young 2022-08-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Fulgent Genetics, Fulgent Genetics RCV002496471 SCV002810048 likely benign 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 2022-04-11 criteria provided, single submitter clinical testing

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