ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)

dbSNP: rs879253757
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva, University Hospital of Geneva RCV000234886 SCV000292231 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2015-03-16 criteria provided, single submitter clinical testing This recessive mutation in the KCNJ11 gene was found in a case of congenital hyperinsulinemic hypoglycemia. The combination of this mutation with a second recessive mutation (c.440T>C) in the same gene explains the phenotype of this newborn patient.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226700 SCV002505470 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs879253757 variant in MODY yet.
Baylor Genetics RCV004567770 SCV005059788 pathogenic Type 2 diabetes mellitus 2024-02-08 criteria provided, single submitter clinical testing

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