Article

Multi-site validation of a functional assay to adjudicate<i>SCN5A</i>Brugada Syndrome-associated variants

2023-12-20

Abstract excerpt

Brugada Syndrome (BrS) is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in the cardiac sodium channel gene, SCN5A . Interpreting the pathogenicity of SCN5A missense variants is challenging and ∼79% of SCN5A missense variants in ClinVar are currently classified as Variants of Uncertain Significance (VUS). An in vitro SCN5A -BrS automated patch clamp assay was generated...

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Literature Corpus work: b8c0bf45-7a7f-5acf-ba6b-3148e84821fc
DOI: 10.1101/2023.12.19.23299592

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