ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1624-29G>A

gnomAD frequency: 0.00005  dbSNP: rs532689884
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463647 SCV002605146 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 rs532689884 with MODY3.
CeGaT Center for Human Genetics Tuebingen RCV005256564 SCV005910974 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing HNF1A: BS2
ITMI RCV000122366 SCV000083917 not provided not specified 2013-09-19 no assertion provided reference population

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