Table 6.
Distribution of the NF1 pathogenic variant types between the SNF and classical groups.
| Mutation Type | SNF n (%) (n = 70) | Classical n (%) n = 106 | p-Value | OR (95% CI) | Total Number |
|---|---|---|---|---|---|
| Large deletion | 7 (10) | 6 (5.7) | 0.28 | 1.85 (0.59–5.77) | 13 |
| Frameshift | 17 (24.3) | 38 (35.8) | 0.10 | 0.57 (0.29–1.13) | 55 |
| Missense | 15 (21.4) | 8 (7.5) | 0.007 * | 3.34 (1.33–8.38) | 28 |
| Nonsense | 10 (14.2) | 28 (26.4) | 0.055 | 0.46 (0.20–1.03) | 38 |
| Splicing | 19 (27) | 26 (24.5) | 0.70 | 1.15 (0.58–2.28) | 45 |
| Deletion/insertion | 2 (2.9) | 0 | 0.16 | 7.7 (0.97–16.44) | 2 |
In bold statistically significant p-value.* Statistically significant p-values with a false discovery rate of 0.05 after correction for multiple testing using the Benjamini–Hochberg procedure.