ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)

gnomAD frequency: 0.00001  dbSNP: rs1266231295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671861 SCV000796891 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2018-01-04 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227202 SCV002505939 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. However, the significance of this particular variant (rs1266231295) in MODY remains uncertain.
Fulgent Genetics, Fulgent Genetics RCV002493109 SCV002788911 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 2022-03-16 criteria provided, single submitter clinical testing

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