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

Table 4 Pathogenic variants identified on ES in samples with known molecular diagnosis

#	Gene	Phenotype of gene	Variant	Protein change	Zygosity	Change found
1	KCNH2	Long QT, Short QT	c.1882G > A	p.Gly628Ser	Heterozygous	Yes
2	KCNQ1	Familial atrial fib, Long QT, Short QT	c.1552 C > T	p.Arg518^a	Heterozygous	Yes
3	KCNH2	Long QT, Short QT	c.1838C > T	p.Thr613Met	Heterozygous	Yes
4	SCN5A	BrS^a, DCM^b, Familial atrial fib, Long QT	c.4978A > G	p.Ile1660Val	Heterozygous	Yes
5	KCNQ1	Familial atrial fib, Long QT, Short QT	c.704 T > A	p.Ile235Asn	Heterozygous	Yes
6	MYL2	HCM^c	c.173G > A	p.Arg58Gln	Heterozygous	Yes
7	KCNE1	Long QT	c.226G > A	p.Asp76Asn	Heterozygous	Yes
8	KCNQ1	Familial atrial fib, Long QT, Short QT	c.1140G > T	p.Arg380Ser	Heterozygous	Yes
9	MYH7	DCM, HCM, LVNC^d	c.2572C > T	p.Arg858Cys	Heterozygous	Yes
10	MYL2	HCM	c.173G > A	p.Arg58Gln	Heterozygous	Yes
11	TTN	DCM, HCM	c.59216 T > A; c.94578delT	p.Val19664Glu; p.Thr31451Thrfs^a9	Compound Heterozygous	Yes
12	FBN1	Marfan syndrome	c.2347 A > C	Asn783His	Heterozygous	Yes
13	ACTC; TTN	DCM, HCM, LVNC; DCM, HCM	ACTC: c.806 T > C; TTN: c.11323 G > A	Ile269Thr; Ala3775Thr	Heterozygous	Yes

^aBrugada syndrome, ^bDilated cardiomyopathy, ^cHypertrophic cardiomyopathy, ^dLeft ventricular noncompaction

ISSN: 1479-7364