ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)

dbSNP: rs1554901658
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671725 SCV000796733 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-12-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226732 SCV002505443 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, KCNJ11 gene-Neonatal Diabetes association was observed with insufficient evidence of rs1554901658 variant in MODY yet.

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