ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)

dbSNP: rs1404429785
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243629 SCV002512142 uncertain significance Hyperinsulinemia 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. However, the role of this particular variant (rs1404429785) in MODY remains uncertain yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002243628 SCV002512143 likely risk allele Hypoglycemia 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. However, this particular variant (rs1404429785) of KCNJ11 is associated with hypoglycemia.
OMIM RCV000009221 SCV000029439 pathogenic Hyperinsulinemic hypoglycemia, familial, 2 2008-08-01 no assertion criteria provided literature only

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