ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)

gnomAD frequency: 0.00003  dbSNP: rs1233061680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669653 SCV000794429 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-09-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226729 SCV002505649 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. Though prevalence of rs1233061680 of KCNJ11 gene was seen in Gestational diabetes cases, its significance in MODY remains uncertain.

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