Case-140 (rhabdomyosarcoma, 4.6 yrs) carried a de novo LP splice region variant (LRG_214t2:c.6819+3del) in NF1. A neurofibromatosis (NF) type I patient has been reported in the LOVD database to carry a pathogenic base substitution at the same position where we detected the 1bp-deletion [19]. Here, NF1 is linked to neurofibromatosis.