Related Experiment Video
Updated: Feb 25, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Double jeopardy: long QT3 and Brugada syndromes
Amneet Sandhu1, Ryan T Borne1, Chandara Mam2
1Division of Cardiovascular Medicine Department of Internal Medicine The University of Colorado Aurora Colorado.
Abstract:
Mutations in the SCN5A gene are linked to both the long QT syndrome 3 and Brugada syndrome with few reports describing an overlapping phenotype. We present a unique case and discuss clinical considerations of a patient concurrently exhibiting such conditions with genetic analysis confirming an SCN5A mutation.
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