ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.89T>C (p.Leu30Pro) (rs876661320)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kangwon National University Hospital RCV000223803 SCV000267598 likely pathogenic Maturity-onset diabetes of the young, type 2 2017-07-17 criteria provided, single submitter clinical testing Glucokinase-maturityonset diabetes of the young (GCKMODY), also known as MODY2, is caused by heterozygous inactivating mutations in the GCK gene. Because people with GCK-MODY do not develop significant microvascular complications, treatment is not recommended except pregnancy. Glucose-lowering therapy is ineffective in people with GCK-MODY.

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