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Article

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Circulation. Cardiovascular genetics - 1 Aug 2015

Kapplinger Jamie D, Giudicessi John R, Ye Dan, Tester David J, Callis Thomas E, Valdivia Carmen R, Makielski Jonathan C, Wilde Arthur A, Ackerman Michael J

Abstract excerpt

BACKGROUND: A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing. Therefore, the purpose of this study was to enhance interpretation of SCN5A nsSNVs for clinical genetic testing using estimated predictive values derived from protein-topology and 7 in silico tools. METHODS AND RESULTS: Seven in silico tools were used...

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Identifiers

PMID: 25904541
DOI: 10.1161/CIRCGENETICS.114.000831
PMCID: PMC4878676

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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