ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.327-42G>A

gnomAD frequency: 0.28559  dbSNP: rs1169294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000832814 SCV000974570 benign not provided 2018-06-14 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465793 SCV002758783 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 rs1169294 with MODY3.
Breakthrough Genomics, Breakthrough Genomics RCV000832814 SCV005234396 benign not provided criteria provided, single submitter not provided

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