Table 2.
Patient groups and positives for pathogenic/likely pathogenic variants in PKD1/PKD2.
| All (n = 212) | Validation cohort (n = 21) | Confirmation cohort (n = 36) | Discovery cohort (n = 155) | |||||
|---|---|---|---|---|---|---|---|---|
| n | % | n | % | n | % | n | % | |
| PKD1/PKD2 Positive | 138 | 65.1 | 21 | 100.0 | 31 | 86.1 | 86 | 55.5 |
| ADPKD-PKD1 | 118 | 85.5 | 18 | 85.7 | 28 | 90.3 | 72 | 83.7 |
| ADPKD-PKD1T | 92 | 78.0 | 12 | 66.7 | 25 | 89.3 | 55 | 76.4 |
| ADPKD-PKD1NT | 26 | 22.0 | 6 | 33.3 | 3 | 10.7 | 17 | 23.6 |
| ADPKD-PKD2 | 20 | 14.5 | 3 | 14.3 | 3 | 9.7 | 14 | 16.3 |
| PKD1/PKD2 Negative | 74 | 34.9 | 0 | 0.0 | 5 | 13.9 | 69 | 44.5 |
| PKD1/2 VUS | 24 | 11.3 | 0 | 0.0 | 3 | 8.3 | 21 | 13.5 |
| ADPKD-PKD1VUS | 21 | 87.5 | 0 | 0.0 | 3 | 100.0 | 18 | 85.7 |
| ADPKD-PKD2VUS | 3 | 12.5 | 0 | 0.0 | 0 | 0.0 | 3 | 14.3 |
One proband, homozygous for a hypomorphic PKD1 variant, is also included among the positives. Patients showing variants of uncertain significance (VUS) are also reported and included among the negatives. T, protein truncating; NT, protein non-truncating.