This in‐frame deletion co‐occurs with a definite TSC‐causing variant in TSC2 exon 5 (TSC2 c.569dup, p.Y190*) in an infant who fulfils the diagnostic criteria for TSC (cortical tubers, SEGA, subependymal nodules, hypomelanotic macules, renal angiomyolipoma, epilepsy). This evidence concerns the gene TSC2 and tuberous sclerosis.