ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)

gnomAD frequency: 0.00002  dbSNP: rs1261968643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001289315 SCV001477048 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002327626 SCV002601652 uncertain significance 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 rs1261968643 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002499511 SCV002782297 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 2024-01-03 criteria provided, single submitter clinical testing

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