Open access
Aug 2026
Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease
A large majority of PKD1 missense variants are classified as VUS with current pathogenicity criteria, and commonly used silico tools, applied with established genome-wide thresholds, do not reliably distinguish pathogenic and benign missense variants in PKD1.
N. Lehmann, S. Koo, Y. Hort et al.
· medRxiv · 0 citations