ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.264G>A (p.Glu88=)

gnomAD frequency: 0.00002  dbSNP: rs201223431
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305292 SCV000376708 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000861723 SCV001002115 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV000305292 SCV002600906 likely 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 rs201223431 with MODY3.
PreventionGenetics, part of Exact Sciences RCV003920271 SCV004735445 likely benign HNF1A-related disorder 2020-08-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586676 SCV005077590 benign not specified 2024-04-18 criteria provided, single submitter clinical testing

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