ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala)

dbSNP: rs587783671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146109 SCV000193326 likely pathogenic Neonatal insulin-dependent diabetes mellitus 2013-02-08 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226686 SCV002505457 uncertain significance Neonatal hypoglycemia criteria provided, single submitter research Mutations in KCNJ11 genes can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. This gene mutations are important triggers of transient neonatal diabetes too. However, the signficance of rs587783671 (p.E179A) in Transient Neonatal Diabetes mellitus and MODY remains inconclusive.

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