TABLE 4

Genetic Variants

TSC1, % (n)TSC2, % (n)TSC2 (VUS), % (n)NMI, % (n)Total, % (n)
Nonsense7 (8)18 (20)0 (0)26 (28)
Any frameshift6 (6)20 (22)0 (0)26 (28)
Missense0 (0)13 (14)2 (2)15 (16)
Any splice1 (1)12 (13)1 (1)14 (15)
Large deletion0 (0)6 (7)0 (0)6 (7)
Small deletion0 (0)3 (3)0 (0)3 (3)
Total14 (15)72 (79)3 (3)11 (12)100 (109)
De novo13a (5)58a (23)0a (0)70a (28)
Inherited8a (3)20a (8)3a (1)30a (12)
  • VUS, variant of unknown significance; —, not applicable.

  • a Out of 40 subjects for whom both parents also had genetic testing.