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Article

SCN5A (NaV1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Circulation. Genomic and precision medicine - 1 May 2018

Kroncke Brett M, Glazer Andrew M, Smith Derek K, Blume Jeffrey D, Roden Dan M

Abstract excerpt

BACKGROUND: Accurately predicting the impact of rare nonsynonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac sodium channel SCN5A (protein NaV1.5; voltage-dependent cardiac Na+ channel) are associated with multiple arrhythmia disorders, including Brugada syndrome and long QT syndrome. Rare SCN5A variants also occur in ≈1% of unaffected individuals. We...

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Identifiers

PMID: 29728395
DOI: 10.1161/CIRCGEN.118.002095
PMCID: PMC5941942

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Source receipt: pubmed, retrieved 7 Sept 2026.

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