Type IV Collagen Variants in CKD: Performance of Computational Predictions for Identifying Pathogenic Variants.

ABSTRACT:

Rationale & objective

Pathogenic variants in type IV collagen have been reported to account for a significant proportion of chronic kidney disease. Accordingly, genetic testing is increasingly used to diagnose kidney diseases, but testing also may reveal rare missense variants that are of uncertain clinical significance. To aid in interpretation, computational prediction (called in silico) programs may be used to predict whether a variant is clinically important. We evaluate the performance of in silico programs for COL4A3/A4/A5 variants.

Study design setting & participants

Rare missense variants in COL4A3/A4/A5 were identified in disease cohorts, including a local focal segmental glomerulosclerosis (FSGS) cohort and publicly available disease databases, in whi

SUBMITTER: Shulman C 

PROVIDER: S-EPMC8039416 | biostudies-literature | 2021 Mar-Apr

REPOSITORIES: biostudies-literature