P550: Predicting pathogenicity in Fabry disease: Longitudinal analysis of GLA variant reclassification and trajectories (2023–2025)*

Genetics in Medicine Open 2026 Open access

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Authors: Amina Kurtović-Kozarić, Jeffrey Bissonnette, Lejla Comor, Biliana O. Veleva-Rotse, Lee Ann Lawson, Derek J. Timm, Mark J. Kiel
DOI: 10.1016/j.gimo.2026.104041
Cited by: 1

Abstract

Fabry disease is a rare X-linked metabolic disorder caused by deficiency of the lysosomal enzyme α-galactosidase A (GLA). Accurate reclassification of GLA variants, from uncertain significance (VUS) to pathogenic, is critical for timely diagnosis and effective clinical management. As new functional, population-level, and clinical evidence continues to emerge, regular updates of VUS are essential. The rapid expansion of genomic and clinical datasets, coupled with advances in artificial intelligence, now enables efficient integration of large-scale evidence to support more timely and accurate variant interpretation.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Genomics and Rare Diseases Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Publisher
Elsevier BV
Volume
4
Pages
104041–104041
Publication date
1 January 2026
Language
EN