ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)

gnomAD frequency: 0.00001  dbSNP: rs745379486
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174373 SCV001337511 uncertain significance Monogenic diabetes 2019-02-22 criteria provided, single submitter research ACMG criteria: PM2 (extremely low frequency in gnomAD)= VUS (REVEL 0.513 + PP3/7 predictors + BP4/2 predictors= conflicting evidence, not using)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227252 SCV002505473 uncertain significance Transitory neonatal 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 may be responsive to oral sulfonylureas. It is also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs745379486 variant in MODY yet.
Fulgent Genetics, Fulgent Genetics RCV002505753 SCV002816376 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 2021-10-05 criteria provided, single submitter clinical testing

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