Article

High-throughput reclassification of <i>SCN5A</i> variants

2019-11-29

Abstract excerpt

<h4>Rationale</h4> Partial or complete loss of function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada Syndrome (BrS1). However, the pathogenicity of SCN5A variants is often unknown or disputed; 80% of the 1,390 SCN5A missense variants observed in at least one individual to date are variants of uncertain significance (VUS). The designation of VUS is a barrier to the use...

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Literature Corpus work: 8b0cb18c-d4a6-5f8d-9f9e-998323d077a7
DOI: 10.1101/858175

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