ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)

gnomAD frequency: 0.00011  dbSNP: rs145935651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336920 SCV001530451 uncertain significance Permanent neonatal diabetes mellitus 1 2018-10-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226778 SCV002505451 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 rs145935651 variant in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002493733 SCV002784518 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 2022-04-29 criteria provided, single submitter clinical testing

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