ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.150C>T (p.Cys50=)

gnomAD frequency: 0.00004  dbSNP: rs193922583
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Total submissions: 4
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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 RCV000030484 SCV000053154 likely benign Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002326701 SCV002601661 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 rs193922583 with MODY3.
Fulgent Genetics, Fulgent Genetics RCV002504834 SCV002805538 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 2021-09-29 criteria provided, single submitter clinical testing
Invitae RCV003574703 SCV004369292 likely benign not provided 2023-12-13 criteria provided, single submitter clinical testing

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