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Article

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.

JACC. Clinical electrophysiology - 1 Feb 2026

Neves Raquel, Crotti Lia, Bains Sahej, Bos J Martijn, Ye Dan, Dagradi Federica, Musu Giulia, Spiezia Federica, Pedrazzini Matteo, Giovenzana Fulvio L F, Cerea Paolo, Giudicessi John R, Schwartz Peter J, Ackerman Michael J

Abstract excerpt

BACKGROUND: Pathogenic/likely pathogenic variants in the KCNH2-encoded Kv11.1 potassium channel cause type 2 long QT syndrome (LQT2). Despite the updated 2015 American College of Medical Genetics (ACMG) variant interpretation guidelines, the burden of KCNH2 variants of uncertain significance (VUS) in patients evaluated for long QT syndrome (LQTS) remains ∼30%. Previously, we developed and validated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41288544
DOI: 10.1016/j.jacep.2025.10.005

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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