Table 2.
Gene | No. of Variants of Uncertain Significance | No. Predicted Deleterious by 10/12 Programs | No. of Variants With Secretory Defect | Congruence |
---|---|---|---|---|
COL4A3 | 4 | 3 | 0 | 0% |
COL4A5 | 4 | 2 | 1 | 50% |
Note: Only 1 variant of uncertain significance in COL4A5 was found to have a secretory defect, which was accurately predicted by in silico predictions. However, 1 variant of uncertain significance without evidence of a secretory defect was also predicted to be deleterious.
Abbreviation: FSGS, focal segmental glomerulosclerosis.