Nationwide Functional Profiling Enables Clinical Reclassification of KCNH2 Variants in the French LQT2 Population

Background: The increasing use of genetic testing has identified thousands of KCNH2 variants associated with long QT syndrome type 2 (LQT2), yet most remain variants of uncertain significance (VUS). Translating functional abnormalities into clinically actionable evidence remains a major challenge. We established a nationwide functional genomics strategy to systematically characterize KCNH2 variants identified in the French LQT2 population and improve their clinical interpretation. Methods: We characterized 303 KCNH2 variants, including 201 VUS, using standardized high-throughput automated patc

This content is for informational purposes only and is not medical advice. It is not intended to diagnose, treat, cure, or prevent any disease. Consult a healthcare professional before starting any supplement, treatment, or program: especially if you are pregnant, nursing, taking medication, or managing a health condition.