ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)

dbSNP: rs28936678
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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 RCV000009197 SCV000292230 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.154C>T) in the same gene explains the phenotype of this newborn patient.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227020 SCV002505948 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. However, no sufficient evidence is found to ascertain the role of this particular variant (rs28936678 ) in MODY yet.
OMIM RCV000009197 SCV000029414 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 1995-02-01 no assertion criteria provided literature only

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