ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.154C>T (p.Gln52Ter) (rs879253757)

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Total submissions: 1
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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.

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