ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)

dbSNP: rs797045637
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193250 SCV000247656 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2015-01-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226699 SCV002505437 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 rs797045637 variant in MODY yet.
Baylor Genetics RCV003468883 SCV004198058 likely pathogenic Type 2 diabetes mellitus 2023-06-19 criteria provided, single submitter clinical testing

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