ClinVar Miner

Submissions for variant NM_000545.8(HNF1A):c.1747_1766del (p.Arg583fs)

dbSNP: rs1592898255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993269 SCV001146105 pathogenic not provided 2018-11-06 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002327220 SCV002601623 likely pathogenic 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 rs1592898255 with MODY3.

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