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Article

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart rhythm - 1 Jul 2010

Tester David J, Valdivia Carmen, Harris-Kerr Carole, Alders Marielle, Salisbury Benjamin A, Wilde Arthur A M, Makielski Jonathan C, Ackerman Michael J

Abstract excerpt

BACKGROUND: Considering that approximately 2% of Caucasian controls host rare, nonsynonymous variants in the SCN5A-encoded cardiac sodium channel, caution must be exercised when interpreting SCN5A genetic test results for long QT syndrome (LQTS). OBJECTIVE: The purpose of this study was to determine if A572D-SCN5A is a pathogenic mutation, a possible functional modifier, or background "genetic noise." METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20403459
DOI: 10.1016/j.hrthm.2010.04.014
PMCID: PMC3074983

Genes

KCNH2
KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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