Table 3.
Types of 158 distinct possible pathogenic variants detected in PKD1 and PKD2 genes.
| PKD1 variants | PKD2 variants | |||||
|---|---|---|---|---|---|---|
| N | %A | N | %A | N | %A | |
| All variants | 158 | 100.0 | 139 | 88.0 | 19 | 12.0 |
| N | %B | N | %C | |||
| Novel | 80 | 50.6 | 73 | 52.5 | 7 | 36.8 |
| Known | 78 | 49.4 | 66 | 47.5 | 12 | 63.2 |
| De novo | 7 | 4.4 | 6 | 4.3 | 1 | 5.3 |
| Truncating | 100 | 63.3 | 85 | 61.2 | 15 | 78.9 |
| Non-truncating | 58 | 36.7 | 54 | 38.8 | 4 | 21.1 |
| Pathogenic | 95 | 60.1 | 82 | 59.0 | 13 | 68.4 |
| Likely pathogenic | 25 | 15.8 | 21 | 15.1 | 4 | 21.1 |
| VUS | 30 | 19.0 | 28 | 20.1 | 2 | 10.5 |
| Hypomorphic | 8 | 5.1 | 8 | 5.8 | 0 | 0.0 |
| Missense | 54 | 34.2 | 50 | 36.0 | 4 | 21.1 |
| Non-sense | 46 | 29.1 | 41 | 29.5 | 5 | 26.3 |
| Frameshift/indel | 36 | 22.8 | 32 | 23.0 | 4 | 21.1 |
| Splicing | 10 | 6.3 | 6 | 4.3 | 4 | 21.1 |
| Large rearrangements | 8 | 5.1 | 6 | 4.3 | 2 | 10.5 |
| In-frame indel | 4 | 2.5 | 4 | 2.9 | 0 | 0.0 |
A
% among all variants;
B
% among PKD1 variants;
C
% among PKD2 variants. Pathogenic, Likely pathogenic and VUS are classified following American College of Medical Genetics and Genomics standard.