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. Author manuscript; available in PMC: 2017 Nov 1.
Published in final edited form as: Mayo Clin Proc. 2016 Oct 1;91(11):1503–1514. doi: 10.1016/j.mayocp.2016.06.031

TABLE 4.

The rare variants identified in primary arrhythmia or cardiomyopathy susceptible genes in Brugada syndrome patientsa,b

Case Age
(years)		 Gene Transcript Nucleotide
change		 Amino acid
change		 dbSNP MAF Condel
prediction		 Associated
diseases		 ACMG
Definition		 Ref
NHLBI
ESP		 1000
Genomes		 Local
Database		 ExAC
Overall		 ExAC
East Asian
1 25 MYH6 NM_002471.3 c.5539C>T p.Arg1847Trp - - - - - - deleterious DCM,HCM VUS
2 30 SCN5A NM_198056.2 c.1198G>A p.Gly400Arg - - - - - - deleterious BrS LP 18
3 48 SCN5A NM_198056.2 c.3823G>A p.Asp1275Asn rs137854618 - - - - - deleterious CCD P 19,20
DSP NM_00100884 c.943C>T p.Arg315Cys rs200476515 0.00008 0.0005 0.0005 0.00007456 0.00047 deleterious ARVC VUS
DTNA NM_001198938.1 c.1891C>T p.Arg631Cys - - - - 0.00002482 0.00012 deleterious LVNC VUS
4 39 SCN5A NM_198056.2 c.4282G>T p.Ala1428Ser rs200034939 - 0.0005 - 0.00002486 0.00035 deleterious BrS,LQTS VUS 21,22
9 38 CACNA1C NM_001129843.1 c.4393T>C p.Phe1465Leu - - - - - - deleterious BrS VUS
11 40 SCN5A NM_198056.2 c.4282G>T p.Ala1428Ser rs200034939 - 0.0005 - 0.00002486 0.00035 deleterious LQTS, BrS VUS 21,22
12 57 JUP NM_002230.2 c.1807G>T p.Val603Leu rs200327969 - 0.0005 0.0023 0.0006604 0.0055 deleterious ARVC VUS 23
13 60 MYH6 NM_002471.3 c.1111G>A p.Glu371Lys - - - - - - deleterious DCM,HCM VUS
14 53 SCN5A NM_198056.2 c.5676delC p.Thr1893Profs*29 - - - - - - - BrS P
SCN5A NM_198056.2 c.5692C>T p.Arg1898Cys - 0.00008 - - 0.00002484 0.00012 neutral BrS VUS
MYO6 NM_004999.3 c.3824A>G p.Tyr1275Cys rs146461956 0.00023 0.0037 0.0058 0.005352 0.0029 deleterious HCM VUS
15 55 ACTN2 NM_001103.2 c.1192C>T p.Arg398Cys rs148189507 0.00023 - - 0.00003295 0.00012 deleterious DCM VUS
17 50 MYH7 NM_000257.2 c.77C>T p.Ala26Val rs186964570 0.000077 0.0032 0.0085 0.0005687 0.0069 neutral HCM VUS 24,25
a

LP = Likely pathogenic; MAF = Minor allele frequency; P = Pathogenic; Ref = references associated with the corresponding variant, which were listed in the online-only references in the Supplements; VUS = Rare variants of uncertain significance.

b

All cases list above except No.12 and 17 were males; age refers to the age at the time of diagnosis; all variants were heterozygous.