Joanne G Ma, Matthew J O'Neill, Ebony Richardson, Kate L Thomson, Jodie Ingles, Ayesha Muhammad, Joseph F Solus, Giovanni Davogustto, Katherine C Anderson, M Benjamin Shoemaker, Andrew B Stergachis, Brendan J Floyd, Kyla Dunn, Victoria N Parikh, Henry Chubb, Mark J Perrin, Dan M Roden, Jamie I Vandenberg, Chai-Ann Ng, Andrew M Glazer
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 for high-throughput functional studies of Na V 1.5. The assay was independently studied at two separate research sites - Vanderbilt University Medical Center and Victor Chang Cardiac Research Institute - revealing strong correlations, including peak I Na density ( R 2 =0...
December 20, 2023: medRxiv