ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.762G>A (p.Pro254=)

gnomAD frequency: 0.00002  dbSNP: rs761931092
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000941892 SCV001087795 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227229 SCV002506496 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 this particular variant (rs761931092) in MODY yet.

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