Table 2.

Summary of Demographic, Clinical and SCN5A/SCN1B Gene Variant Characteristics

Patient No.	Age	Sex	Cardiac Dx	Type of FBDs	Gene	Exon	Type and Function of Mutation	Change in Nucleotide	Change in Amino Acid	MAF (1000genome)	MAF (ESP)	MAF (gnomAD)	SIFT-Prediction	Polyphen-2 Prediction	Gene References
1	31	M	BrS	IBS-C	SCN5A	22	Missense LofF	c.3878T>C	p.Phe1293Ser	NA	NA	0.0005892	Tolerated	Benign	Sommariva E, et al. Cardiogenetics 2012; 2:e11.
2	32	F	BrS	IBS-C	SCN1B	NA	Intronic Unknown	IVS5+36G>A	NA	NA	NA	NA	NA	NA	NA
3	34	F	BrS	IBS-C	SCN5A	22	Missense LofF	c.3878T>C	p.Phe1293Ser	NA	NA	0.0005892	Tolerated	Benign	Sommariva E, et al. Cardiogenetics 2012; 2:e11.
4	35	F	DI-Type 1 BrP	Functional AB/D	SCN1B	5	Missense Unknown	c.638G>A	p.Gly213Asp	0.0002	0	0.00001768	Damaging	Possibly Damaging	NA
5	44	M	BrS	IBS-D	SCN5A	27	Missense Unknown	c.4789G>A	p.Val1597Met	NA	NA	0.0000177	Damaging	Probably Damaging	Hedley PL, et al. Hum Mutat. 2009;30:1486–1511.
6	45	F	BrS	None	SCN1B	4	Missense Unknown	c.503T>C	p.Val168Ala	0	0	NA	Tolerated	Benign	Hasdemir C, et al. Heart Rhythm. 2015;12:1584–1594.
7	57	M	BrS	None	SCN1B	3	Missense LofF	c.259G>C	p.Glu87Gln	0	0	0.000003978	Tolerated	Benign	Watanabe H, et al. J Clin Invest. 2008;118:2260–2268.
8	58	F	Control	None	SCN5A	17	Missense Unknown	c.3067C>T	p.Arg1023Cys	NA	NA	0.00002018	Tolerated	Probably Damaging	Watanabe H, et al. Int J Cardiol. 2013;165:e21–3.

BrS = Brugada Syndrome, DI-Type 1 BrP = Drug-Induced Type 1 Brugada Pattern, D_x = Diagnosis, ESP = Exome Sequencing Project, Functional AB/D = Abdominal Bloating/Distension, FBD = Functional Bowel Disorders, gnomAD = Genome Aggregation Database, IBS-C = Irritable Bowel Syndrome Constipation, IBS-D = Irritable Bowel Syndrome Diarrhea, LofF = Loss of Function, MAF = Minor Allele Frequency, 1000 genome = 1000 Human Genome Project Database, Polyphen-2 = Polymorphism Phenotyping 2, SIFT = Sorting Intolerant From Tolerant