Seven (7) patients (6%) were carriers of this variant and were predicted as having intermediate metabolism.6 Thus, in the subgroup of 111 patients with a genotype-phenotype discordance, whole-exome sequencing of the DPYD gene allowed us to correctly reclassify 6% (7/111) of the patients with DPD deficiency. The gene discussed is DPYD; the disease is dihydropyrimidine dehydrogenase deficiency.