ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)

gnomAD frequency: 0.00003  dbSNP: rs750778014
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667748 SCV000792247 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-06-13 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002271555 SCV002505940 benign 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. This particular variant (rs750778014) of KCNJ11 gene is also associated with early onset Type II diabetes Mellitus.
Fulgent Genetics, Fulgent Genetics RCV002493095 SCV002789540 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 2021-08-23 criteria provided, single submitter clinical testing

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