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Table 2 The known and likely pathogenic mutations of Brugada syndrome and long QT syndrome

From: Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel

ID

DS

Chr

Start

Gene

Amino acid change

Het

1000 g/Esp

SIFT

Polyphen

Clinic

ACMG

Evidence

dbSNP

2

LQTs

chr11

2,604,664

KCNQ1

NM_000218:exon7:c.922-1G > C

 ± 

P

P

PVS1, PM2_Supporting, PP4, PP1

rs387906290

5

Brs

chr3

38,598,739

SCN5A

NM_001160161:exon23:c.G4120T:p.A1374S

 ± 

0.001

0.00(D)

1.00(D)

LP

VUS

PM2_Supporting, PM1, PP3

rs200034939

8

Brs

chr3

38,640,451

SCN5A

NM_000335:exon13:c.C1981T:p.R661W

 ± 

 < 0.001

0.00(D)

1.00(D)

P

VUS

PM2_Supporting, PP3

rs199473139

10

Brs

chr3

38,622,757

SCN5A

NM_000335:exon17:c.C2893T:p.R965C

 ± 

0.001

0.00(D)

1.00(D)

LP

VUS

PM2_Supporting, PS4_M, PS3_Supporting, PP3

rs199473180

11

Brs

chr18

29,116,333

DSG2

NM_001943:exon11:c.T1592G:p.F531C

 ± 

0.00(D)

1.00(D)

LP

LP

PM2_Supporting, PM3_Strong, PS3_Supporting

rs200484060

  

chr3

38,598,739

SCN5A

NM_001160161:exon23:c.G4120T:p.A1374S

 ± 

0.001

0.00(D)

1.00(D)

LP

VUS

PM2_Supporting, PS4_Supporting, PP3

rs200034939

13

LQTs

chr3

38,592,170

SCN5A

NM_001099405:exon27:c.G5639A:p.R1880H

 ± 

 < 0.001

0.06(T)

0.99(D)

P

VUS

PM2_Supporting, PS4_Supporting, PP3

rs370694515

18

Brs

chr7

150,644,473

KCNH2

NM_172057:exon9:c.G2075A:p.R692Q

 ± 

0.001

0.58(T)

1.00(D)

LP

VUS

PM2_Supporting, PP2

rs199473020

19

LQTs

chr11

2,604,664

KCNQ1

NM_000218:exon7:c.922-1G > C

 ± 

P

P

PVS1, PM2_Supporting, PP4, PP1

rs387906290

21

LQTs

chr7

150,649,569

KCNH2

NM_001204798:exon2:c.G481A:p.D161N

± 

0.00(D)

1.00(D)

P

LP

PM2_Supporting, PS4_M, PS3_Supporting, PP2, PP3

rs199472912

22

LQTs

chr11

2,593,286

KCNQ1

NM_000218:exon5:c.C727A:p.R243S

 ± 

0.00(D)

1.00(D)

P

LP

PM2_Supporting, PM5, PM1, PP3

rs199472713

  1. DS diseases, LQTs long QT syndrome, Brs Brugada syndrome, Chr chromosome, 1000G/Esp 1000genomes (2015 version) or Esp6500 database, SNP single nucleotide polymorphism, PP polyphen-2, D damaging, B benign, T tolerated, ± heterozygous carrier, P pathogenic, LP likely pathogenic, – no report