ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.537T>C (p.His179=)

gnomAD frequency: 0.00001  dbSNP: rs765329757
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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 RCV001288073 SCV001474909 likely benign not provided 2020-03-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002319693 SCV002604975 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 rs765329757 with MODY3.
Labcorp Genetics (formerly Invitae), Labcorp RCV001288073 SCV004675332 likely benign not provided 2023-02-10 criteria provided, single submitter clinical testing

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