ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.8C>T (p.Ser3Phe)

dbSNP: rs587783674
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226805 SCV002505460 uncertain significance Type 2 diabetes mellitus criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which is responsive to oral sulfonylureas.Uncertain significance of p.S3C (rs587783674) variant is seen in neonatal and type II diabetes mellitus.

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