ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)

dbSNP: rs1440128889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195253 SCV000247649 uncertain significance not specified 2013-02-08 criteria provided, single submitter clinical testing
Counsyl RCV000669705 SCV000794482 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-09-26 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226695 SCV002505404 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. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs1440128889 variant in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002492879 SCV002775187 uncertain significance Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2; Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13; Diabetes mellitus, permanent neonatal 2 2021-07-02 criteria provided, single submitter clinical testing

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