Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease
Nicole Lehmann, Steven Koo, Yvonne Hort, Gopala K. Rangan, Gladys Ho, Rocío Rius, Amali C. Mallawaarachchi
The paper evaluates the performance of in silico tools in classifying PKD1 missense variants as pathogenic or benign, finding most are classified as VUS and tools lack reliability.
medRxiv · Aug 2, 2026 · PreprintGenetic & Genomic Medicine