Individuals with p.Met992del had Lisch nodules significantly less often and no externally visible plexiform neurofibromas, cutaneous and subcutaneous neurofibromas, compared with the cohort of individuals with the NF1 missense pathogenic variants at residues 844–848 and previously reported “classic” NF1 population (all P < 0.0001, statistically significant after B–H correction at FDR 0.01; Table 2). This evidence concerns the gene NF1 and neurofibroma.