Regarding TSC2 variations, LOVD currently includes 238 single nucleotide variations of canonical +/-1 or 2 splice sites, and these variations are classified as either likely pathogenic or pathogenic. The early diagnosis of TSC facilitates genetic counseling, therapeutic intervention, and disease monitoring (Northrup and Krueger, 2013; Northrup et al., 2021). Here, TSC2 is linked to tuberous sclerosis.