When analyzed in greater depth, these variants present some doubts about their actual pathogenicity: (a) each of them is associated with a single patient, and they are not part of a recognizable cluster of mutations; (b) p.I381V has been found in 1 healthy individual; (c) p.A449V has been found in an individual whose mother and father presented with intellectual disability independently of the mutational state of CERT1; (d) p.R366T has been found in an individual for whom the very little information we have would point toward a very mild phenotype. This evidence concerns the gene CERT1 and Intellectual disability.