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. 2021 Feb 10;3(2):257–266. doi: 10.1016/j.xkme.2020.12.007

Table 2.

Comparison of Functional Annotation With In Silico Predictions for Variants of Uncertain Significance in COL4A3 and COL4A5 Identified in the FSGS Cohort

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.