ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)

dbSNP: rs1554334433
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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 RCV000502957 SCV000594945 pathogenic Hyperinsulinism due to glucokinase deficiency 2016-12-27 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002287417 SCV002577626 uncertain significance 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 well. However, there is no sufficient evidence to assertain the significance of rs1554334433 in MODY, yet. This variant is shown to be potentially damaging by insilico analysis.

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