ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)

dbSNP: rs1554901747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672141 SCV000797210 uncertain significance Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2 2018-01-16 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002227203 SCV002505938 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. However, this particular variant (rs1554901747) is associated with hypoglycemia and response to diazoxide.

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