NF1 and neurofibromatosis type 1: Th NF1 c.4340A>C (p.Gln1447Pro) variant affects a conserved residue within the GAP-related domain of neurofibromin, at a codon previously recognized as pathogenic, where other substitutions such as p.Gln1447Arg, p.Gln1447His, and p.Gln1447Ter have been described in patients with neurofibromatosis 1.