Table 2.

CaM Variants in LQTS and LQTS/CPVT Overlap Phenotypes.

Study	Variants	Gene	Disease	Sex	Race	QTc (ms)	Age at diagnosis	Events	Increased Ca2+ Dissociation C-Domain	Cav1.2	Nav1.5	RyR2
Crotti	p.D96V	CALM2	LQTS	F	Hispanic	690	prenatal	Cardiac arrest	14-fold	Loss of CDI	No effect	No effect
Boczek	p.D96V	CALM2	LQTS	F	Hispanic	690	prenatal	Cardiac arrest	14-fold	Loss of CDI	No effect	No effect
Makita	p.N98I	CALM2	LQTS	M	White – England	555	17 months	Cardiac arrest	7-fold	NA	NA	NA
Makita/Nyegaard	p.N98S	CALM2	LQTS/CPVT	M	Japanese	478	5 years	Syncope during exertion	1.7-fold decreased affinity	1.6-fold decrease in CDI	NA	Greater open probability
Crotti	p.D130G	CALM1	LQTS	F	White – Italy	630	6 months	Cardiac arrest	54-fold	Loss of CDI	7.5-fold increase in fetal Nav1.5 late current	Lower binding affinity
Crotti	p.D130G	CALM1	LQTS	M	Grecian	610	1 month	Cardiac arrest	54-fold	Loss of CDI	7.5-fold increase in fetal Nav1.5 late current	Lower binding affinity
Reed	p.D130G	CALM3	LQTS	M	White	690	birth	None	54-fold	Loss of CDI	7.5-fold increase in fetal Nav1.5 late current	Lower binding affinity
Boczek	p.D130G	CALM2	LQTS	F	Indian	740	birth	Cardiac arrest	54-fold	Loss of CDI	7.5-fold increase in fetal Nav1.5 late current	Lower binding affinity
Boczek	p.D130V	CALM2	LQTS	M	White	800	birth	Cardiac arrest	NA	NA	NA	NA
Makita	p.D132E	CALM2	LQTS/CPVT	F	White – Germany	578	<9 years	Exercise induced syncope	23-fold	NA	NA	NA
Makita	p.D134H	CALM2	LQTS	F	Japanese	579	6 years	Cardiac arrest	13-fold	NA	NA	NA
Makita	p.Q136P	CALM2	LQTS/CPVT	F	Morracan	500	8 years	Syncope – SCD age 11	9-fold	NA	NA	NA
Boczek	p.E141G	CALM1	LQTS	M	Indian	610	4 years	Cardiac arrest	11-fold decreased affinity	8.1-fold increase in Cav1.2 late current	2.7-fold increase in Nav1.5 late current	No effect
Crotti	p.F142L	CALM1	LQTS	F	White – Italy	600	prenatal?	Cardiac arrest	5-fold	Yes – loss of CDI	No effect	Lower binding affinity
Boczek	p.F142L	CALM1	LQTS	F	Black	612	birth	Cardiac arrest – SCD 2	5-fold	Yes – loss of CDI	No effect	Lower binding affinity
Boczek	p.F142L	CALM1	LQTS	M	Hispanic	620	birth	SCD – 1 year	5-fold	Yes – loss of CDI	No effect	Lower binding affinity

Bold represents CaM positive individuals identified in our cohort of 39 LQTS patients.^{3, 7-11, 18}

NA represents when the test has not been performed

SCD stands for sudden cardiac death