TABLE 4.
Genetic Variants
| TSC1, % (n) | TSC2, % (n) | TSC2 (VUS), % (n) | NMI, % (n) | Total, % (n) | |
|---|---|---|---|---|---|
| Nonsense | 7 (8) | 18 (20) | 0 (0) | — | 26 (28) |
| Any frameshift | 6 (6) | 20 (22) | 0 (0) | — | 26 (28) |
| Missense | 0 (0) | 13 (14) | 2 (2) | — | 15 (16) |
| Any splice | 1 (1) | 12 (13) | 1 (1) | — | 14 (15) |
| Large deletion | 0 (0) | 6 (7) | 0 (0) | — | 6 (7) |
| Small deletion | 0 (0) | 3 (3) | 0 (0) | — | 3 (3) |
| Total | 14 (15) | 72 (79) | 3 (3) | 11 (12) | 100 (109) |
| De novo | 13a (5) | 58a (23) | 0a (0) | — | 70a (28) |
| Inherited | 8a (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.