TSC is a multisystem genetic disease with loss-of-function variants in two causative genes, TSC1 and TSC2. As diverse TSC1 and TSC2 variants result in a range of clinical manifestations, investigating the correlations between phenotype and genotype in individuals with TSC poses a challenge.2 For the TSC2 c.5126C>T variant, more comprehensive clinical examinations were performed on our reported Han-Chinese patient, revealing clinical features such as shagreen patches, which were not documented in previous patients with the same variant. Here, TSC2 is linked to hereditary disease.