ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)

dbSNP: rs1554901596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000560919 SCV000622500 pathogenic Type 2 diabetes mellitus; Maturity-onset diabetes of the young type 13 2017-08-31 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226716 SCV002505413 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 with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs1554901596 variant in MODY yet.

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