ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)

gnomAD frequency: 0.00003  dbSNP: rs758749160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000396277 SCV000341747 uncertain significance not provided 2016-05-25 criteria provided, single submitter clinical testing
Counsyl RCV000665094 SCV000789158 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-01-11 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226703 SCV002505405 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 rs758749160 variant in MODY yet.

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