Reappraisal of Reported Genes for Sudden Arrhythmic Death

Figures

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  Figure 1.. Genes included on clinical gene test panels for Brugada syndrome. Thirty multigene panels exclusively offered for Brugada syndrome were analyzed. The x axis shows the number of panels including each gene. Bars are color coded based on the labs offering the test. A list of labs is provided in the legend to the right of the graph. *The 2 Brugada syndrome panels testing for ANK3 and CACNA1D have marked them as “candidate genes with no evidence, but likely to be related to the phenotype.” LabPLUS offers a panel for BrS types 2, 5, 7, which does not include SCN5A, CACNA1C, and CACNB2.

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  Figure 2.. Clinical validity classifications and matrix scores for Brugada syndrome gene associations. Of the 21 Brugada syndrome genes (y-axis) curated, only SCN5A reached definitive classification; all other genes were classified as limited. Each bar represents scores from a single curator group (G) (G1, G2, G3).

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  Figure 3.. ClinVar variants for Brugada syndrome by gene and clinical interpretation. A, All variants submitted to ClinVar (http://clinvar.com/) by clinical labs for Brugada syndrome have been plotted (N=1223, excluding 182 variants that were literature only or research). Genes are listed along the y axis, whereas the x axis shows the count of variants for each gene. Bars are color coded based on the clinical classification of variants (see legend). B, The relative proportion of submitted variant interpretation classifications for SCN5A and Limited evidence genes.