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Keywords Glucokinase.Glucokinase mutation.Hyperglycaemia.Missense mutation.MODY.Non-pathogenicAbbreviationsGCK GlucokinaseSNP Single nucleotide polymorphismTo the Editor: There is renewed interest in the difficulties ofinterpreting the role of missense variants identified in largescale medical resequencing projects made possible by nextgeneration sequencing technologies. To assist in ascribing arole in disease causation for these variants, a combination ofstatistics,bioinformatictoolsand,ultimately,functionalstudies,willbeneeded.MissensevariantsidentifiedinhighlypenetrantMendelian disorders where co-segregation studies can beperformed provide a model to explore the utility of these tools.The glycolytic enzyme glucokinase plays a key role inglucose stimulated insulin secretion and has been termed thepancreatic beta cell glucose sensor [1]. Heterozygous inacti-vating mutations in the GCK gene encoding glucokinasecause a subtype of MODY characterised by mild fastinghyperglycaemia (fasting plasma glucose 5.5–8 mmol/l,HbA

The previously reported T342P GCK missense variant is not a pathogenic mutation causing MODY