ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.155G>C (p.Gly52Ala)

gnomAD frequency: 0.00083  dbSNP: rs142318174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913419 SCV001058567 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464345 SCV002605554 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. Sufficient evidence is found to confer the association of this particular variant rs142318174 with MODY3.

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