ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)

gnomAD frequency: 0.00002  dbSNP: rs1554901851
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667098 SCV000791495 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-05-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226724 SCV002505429 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 rs1554901851 variant in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002493090 SCV002775988 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 2022-05-21 criteria provided, single submitter clinical testing

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