ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)

gnomAD frequency: 0.00011  dbSNP: rs1014454531
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667619 SCV000792098 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2017-06-07 criteria provided, single submitter clinical testing
GeneDx RCV002225710 SCV002504204 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226725 SCV002505414 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 rs1014454531 variant in MODY yet.
New York Genome Center RCV003227823 SCV003925097 uncertain significance Hyperinsulinemic hypoglycemia, familial, 2; Maturity-onset diabetes of the young type 13 2022-04-15 criteria provided, single submitter clinical testing The c.302C>A variant in KCNJ11 has previously been reported in an heterozygous state in an infant with congenital hyperinsulinism [PMID: 15562009] and it has been deposited in ClinVar [ClinVar ID: 552375] as Variant of Uncertain Significance. The c.302C>A variant is observed in 96 alleles (~0.016% MAF with 0 homozygotes) in population databases (gnomAD v2.1.1 and v3.1.2, TOPMed Freeze 8), suggesting it is not a common benign variant in the populations represented in those databases, which might include individuals with multifactorial endocrine system disorders. The c.302C>A variant in KCNJ11 is located in the extracellular domain of this 1-exongene, and predicted to replace an evolutionarily conserved alanine amino acid with aspartate at position 101 (p.(Ala101Asp). In silico predictions are not in favor of damaging effect for p.(Ala101Asp) [CADD v1.6 = 18.2, REVEL = 0.467]; however, there are no functional studies to support or refute these predictions. Based on available evidence this c.302C>A p.(Ala101Asp) variant identified in KCNJ11 is classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005046872 SCV005676627 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 2024-02-14 criteria provided, single submitter clinical testing

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