ESPE Abstracts

Background: Over 800 different mutations in GCK gene have been reported in the Human Gene Mutation Database, the vast majority of which result in monogenic diabetes (Maturity Onset Diabetes of the Young, MODY type 2). The missense mutation p.Leu122Val is listed in that database as "disease-causing". However, the National Center for Biotechnology Information ClinVar database (Variation ID 585919) reports that this mutation is of "uncertain ...