Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Table 3 Pathogenic or likely pathogenic variants identified on ES in samples without prior known molecular diagnosis

Gene	Phenotype of gene	Variant	Protein change	Zygosity
SCN5A	BrS^a, DCM^b, Familial atrial fib, Long QT	c.4867C > T	p.Arg1623*	Heterozygous
DSP	ARVD^c, DCM	c.928dupG	p.Glu310Glyfs*13	Heterozygous
KCNE1	Long QT	c.226G > A	p.Asp76Asn	Heterozygous
KCNH2	Long QT, Short QT	c.1750G > A	p.Gly584Ser	Heterozygous
KCNQ1	Familial atrial fib, Long QT, Short QT	c.513C > A	p.Tyr171*	Heterozygous

^aBrugada syndrome, ^bDilated cardiomyopathy, ^cArrhythmogenic right ventricular dysplasia

ISSN: 1479-7364