The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young

Table 2 Pathogenic and likely pathogenic variants identified in epilepsy and cardiac genes

ID	Age at death (years)	Cause of death	ClinVar/criteria	GENE	gDNA	AA change	gnomAD
Epilepsy panel gene variants
1010	0.3	Cardiac, congenital	LP PM2, PP5	QARS*	3:49137655 G>A	p.Arg367Cys	3.19E−05
1172	0.3	Infant suffocation	LP PM2,5 PP3,5	CLN8*	8:1719428 C>T	p.Arg70Cys	0
1193	20	Venous malformation	P PM1,2 PP2,3,5	PPT1*	1:40558081 T>G	p.Thr25Pro	0
	20	Venous malformation	P/LP PS4 PVS1 PM2 PP5	CSTB*	21:45194641 C>G	n.104G>C	0.0003
CMAR1 panel gene variants
1001	0.3	Unexplained	P PM1,2 PP2,3,5	FKRP*	19:47259533 C>A	p.Leu276Ile	0.0014
1012	0.2	Unexplained	P PM1,2,5 PP2,3,5	TTR	18:29178618 G>A	p.Val142Ile	0.0048
1028	0.50	Unexplained	P PM1,2,5 PP2,3,5	TTR	18:29178618 G>A	p.Val142Ile	0.0048
1058	7	Unexplained	LP PM1,2,5 PP2,3,5	CALM3	19:47112212 A>G	p.Asp96Gly	0
1117	0.2	Infant suffocation	P PM1,2,5 PP2,3,5	TTR	18:29178618 G>A	p.Val142Ile	0.0048
1127	0.2	Unexplained	P PM1,2,5 PP2,3,5	TTR	18:29178618 G>A	p.Val142Ile	0.0048
1132	NA	NA	P PVS1 PM2 PP5	DSP	6:7571745 C>T	p.Gln611X	0
Epilepsy and CMAR1 panel gene variants
1214	NA	NA	P PVS1 PM2,5	KCNH2	7:150654393 C>CAG	p.Thr371_Glu372fs	0

Variants in this table were annotated with population frequency, protein effect, literature review, and in silico modeling. Pathogenicity was determined by methods similar to ACMG standards (see the “Methods” section). NA, not reported in case review; P, pathogenic; LP, likely pathogenic. *Gene is generally associated with autosomal recessive inheritance and decedent is heterozygous. AA, amino acid

ISSN: 1756-994X