Utilization of the Genome Aggregation Database, In Silico Tools, and Heterologous Expression Patch Clamp Studies to Identify and Demote Previously Published Type 2 Long QT Syndrome-Causative Variants from Pathogenic to Likely Benign

Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause type 2 long QT syndrome (LQT2). Presently, hundreds of KCNH2 missense variants (MVs) have been published as “disease-causative”. However, an estimated 10% of rare published LQTS MVs may be "false positives”.

Source: Heart Rhythm - September 4, 2019 Category: Cardiology Authors: Connor L. Mattivi, Dan Ye, David J. Tester, Daniel J. Clemens, Wei Zhou, John R. Giudicessi, Michael J. Ackerman Source Type: research