ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)

dbSNP: rs587783666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146103 SCV000193320 uncertain significance Hyperinsulinemic hypoglycemia, familial, 2 2014-02-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227072 SCV002505933 benign Hyperinsulinemic hypoglycemia criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas. This particular variant rs587783666 is associated with persistent hyperinsulinemic hypoglycemia of infancy.
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV003445560 SCV004174091 likely pathogenic Maturity-onset diabetes of the young type 13 no assertion criteria provided clinical testing

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