ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1624-19G>A

gnomAD frequency: 0.00011  dbSNP: rs193922586
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Total submissions: 6
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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 RCV000030487 SCV000053157 uncertain Maturity-onset diabetes of the young type 3 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV000242135 SCV000305104 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000242135 SCV000513247 likely benign not specified 2015-12-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511166 SCV001718364 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000242135 SCV001880075 benign not specified 2021-03-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463617 SCV002605151 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 rs193922586 with MODY3.

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