ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.333C>G (p.Pro111=)

dbSNP: rs61736250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819246 SCV002067188 likely benign not specified 2018-06-22 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002319726 SCV002604915 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs61736250 in MODY, yet.

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