. 2024 Jul 14;76(4):260–267. doi: 10.1016/j.ihj.2024.07.002

Table 3.

Details of P/LP variants detected in the probands.

S.No	Age	Sex	Clinical findings	Gene	Variant	Protein	Inheritance/Zygosity	Class	Segregation	Reported in literature
1	16	M	HCM	MYH7	c.2221G > T	p.Gly741Trp	AD	P	Present in asymptomatic father	Yes
1	16	M	HCM	MYH7	c.2221G > T	p.Gly741Trp	Heterozygous	P	Present in asymptomatic father	Yes
2	17	M	HCM	MYH7	c.2198G > A	p.Gly733Glu	AD	LP	Present in asymptomatic mother and absent in asymptomatic father and sister	Yes
2	17	M	HCM	MYH7	c.2198G > A	p.Gly733Glu	Heterozygous	LP		Yes
3	33	M	HOCM	MYBPC3	c.2905+1G > A	Intronic	AD	P	Not detected in asymptomatic mother	Yes
3	33	M	HOCM	MYBPC3	c.2905+1G > A	Intronic	Heterozygous	P	Not detected in asymptomatic mother	Yes
4	40	M	Chest pain,	SCN5A	c.5963G > A	p.Arg1898His	AD	P	NA	Yes
			Chest pain,	SCN5A	c.5963G > A	p.Arg1898His	Heterozygous	P
			FH, HCM	MYBPC3	c.1224-19G > A	Intronic	AD	LP
			FH, HCM	MYBPC3	c.1224-19G > A	Intronic	Heterozygous	LP
5	42	F	Chest pain	MYBPC3	c.1021_1028del	p.Gly341Ter	AD	P	Present in asymptomatic sister	This study
5	42	F	FH, HCM	MYBPC3	c.1021_1028del	p.Gly341Ter	Heterozygous	P	Present in asymptomatic sister	This study
6	45	M	HCM	MYBPC3	c.3450_3451del	p.Arg1150SerfsTer18	AD	P	NA	This study
6	45	M	HCM	MYBPC3	c.3450_3451del	p.Arg1150SerfsTer18	Heterozygous	P	NA	This study
7	48	M	Presyncope,	MYBPC3	c.3372C > A	p.Cys1124Ter	AD	P	Present in 2 asymptomatic children	Yes
7	48	M	HCM	MYBPC3	c.3372C > A	p.Cys1124Ter	Heterozygous	P	Present in 2 asymptomatic children	Yes
8	48	M	Chest pain,	MYBPC3	c.3009_3010del	p.Gln1004GlyfsTer46	AD	P	NA	This study
8	48	M	HCM	MYBPC3	c.3009_3010del	p.Gln1004GlyfsTer46	Heterozygous	P	NA	This study
9	52	M	HCM	MYBPC3	c.1021_1028del	p.Gly341Ter	AD	P	NA	This study
9	52	M	HCM	MYBPC3	c.1021_1028del	p.Gly341Ter	Heterozygous	P	NA	This study
10	67	M	HCM	SLC22A5	c.248G > T	p.Arg83Leu	AR	P	NA	Yes
10	67	M	HCM	SLC22A5	c.248G > T	p.Arg83Leu	Heterozygous	P	NA	Yes
11	17	M	Syncope, sports-related SCD	PKP2	c.235C > T	p.Arg79Ter	AD	P	Present in asymptomatic sister and mother, absent in asymptomatic father	Yes
11	17	M	Syncope, sports-related SCD	PKP2	c.235C > T	p.Arg79Ter	Heterozygous	P		Yes
12	5 months	F	Fetal bradycardia, prolonged QTc, LQTS	KCNQ1	c.477+1G > A	Intronic	AR	P	NA	Yes
12	5 months	F	Fetal bradycardia, prolonged QTc, LQTS	KCNQ1	c.477+1G > A	Intronic	Homozygous	P	NA	Yes
13	9	M	Mildly prolonged QTc, SCD of father	SCN5A	c.5350G > A	p.Glu1784Lys	AD	P	NA	Yes
13	9	M	Mildly prolonged QTc, SCD of father	SCN5A	c.5350G > A	p.Glu1784Lys	Heterozygous	P	NA	Yes
14	48	F	Syncope, prolonged QTc, SCD of son	SCN5A	c.3992C > T	p.Pro1331Leu	AD	P	NA	Yes
14	48	F	Syncope, prolonged QTc, SCD of son	SCN5A	c.3992C > T	p.Pro1331Leu	Heterozygous	P	NA	Yes
15	45	M	Marfanoid features, FH of aortic dissection	FBN1	c.2113G > T	p.Ala705Ser	AD	LP	LP	This study

AD - autosomal dominant, FH – family history, HCM - hypertrophic cardiomyopathy, HOCM – hypertrophic obstructive cardiomyopathy, LP - likely pathogenic, LQTS - congenital long QT syndrome, NA - not available, P - pathogenic, SCD - sudden cardiac death.