ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)

dbSNP: rs587783669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673375 SCV000798572 likely pathogenic Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2018-03-14 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226734 SCV002505455 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.KCNJ11 gene variants are also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs587783669 variant in MODY yet.

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