Conversely, no germline variant was detectable in the 2 patients with clinical diagnosis of TSC-LAM although somatic mutations were found in both of them, patient ID076 carrying a somatic nonsense mutation in TSC1 and patient ID183 carrying 2 somatic mutations in TSC2 (a deletion of exon 34 and an insertion of exon 41 in TSC2 from two separate kidney biopsies and both of them causing frameshift mutations). This evidence concerns the gene TSC1 and tuberous sclerosis.