Enhanced Classification of Brugada Syndrome–Associated and Long-QT Syndrome–Associated Genetic Variants in the SCN5A -Encoded Na v 1.5 Cardiac Sodium Channel
Why the study?
Does the composite use of multiple in silico tools and protein topology improve the classification of SCN5A genetic variants in long-QT and Brugada syndromes?
Population
2888 long-QT syndrome cases, 2111 Brugada syndrome cases, and 8975 controls with SCN5A nonsynonymous single…
Comparison
Composite use of 7 in silico tools and… vs Individual in silico tools or topology alone
Design
Case-control
Authors
Discussion
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Implication
May aid SCN5A nsSNV classification with composite tools; leaves open prospective validation before clinical adoption in LQTS/Brugada.
Structured PICO
Does the composite use of multiple in silico tools and protein topology improve the classification of SCN5A genetic variants in long-QT and Brugada syndromes?
P
Population
2888 long-QT syndrome cases, 2111 Brugada syndrome cases, and 8975 controls with SCN5A nonsynonymous single nucleotide variants (nsSNVs)
I
Intervention
Composite use of 7 in silico tools and protein-topology
C
Comparator
Individual in silico tools or topology alone
O
Outcome
Estimated predictive values for pathogenicity of SCN5A nsSNVssurrogate
The synergistic use of multiple in silico tools and protein topology enhances the clinical interpretation of SCN5A genetic variants in Brugada and long-QT syndromes.
Cite This Study
Kapplinger et al. (2015) studied this question.