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Table 2 Variants of unknown significance in LDS genes detected in our cohort

From: Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients

Patient ID

Gene

Transcript

Nucleotide change

Amino acid change

MAF in ExAC

MAF in gnomAD

Domain

Source

Pathogenicity

Evidence

Note

AD1039

TGFBR1

NM_004612

c.341C > G

p.Thr114Ser

.

.

  

VUS

PM2, BP4

 

AD1248

TGFBR1

NM_004612

c.439A > G

p.Ile147Val

0.0000221

0.000098

Pkinase_Tyr

 

VUS

BP4

 

AD589

TGFBR1

NM_004612

c.605C > T

p.Ala202Val

.

.

  

VUS

PM2, PP3

 

AD823

TGFBR1

NM_004612

c.767A > G

p.His256Arg

.

.

  

VUS

PM2, PP3

 

AD1802

TGFBR1

NM_004612

c.782G > C

p.Gly261Ala

.

.

  

VUS

PM2, PP3

 

AD183

TGFBR1

NM_004612

c.929C > T

p.Ala310Val

0.0000221

0.0006

  

VUS

PP3

 

AD436

TGFBR1

NM_004612

c.935G > T

p.Gly312Val

.

.

  

VUS

PM2, PP3

 

AD1158

TGFBR1

NM_004612

c.1054 T > G

p.Leu352Val

.

.

  

VUS

PM2, PP3

 

AD1753

TGFBR2

NM_003242

c.81C > A

p.His27Gln

.

.

 

NA

VUS

PM2, BP4

 

AD1432

TGFBR2

NM_003242

c.467G > T

p.Ser156Ile

.

.

  

VUS

PM2, BP4

 

AD1348

TGFBR2

NM_003242

c.578G > A

p.Arg193Gln

0.000011

0.0000544

TGF_beta

Paternal

VUS

PM2

 

AD1156

TGFBR2

NM_003242

c.617C > T

p.Thr206Met

0.0000377

0.0006

  

VUS

BP4

 

AD259

TGFBR2

NM_003242

c.830A > G

p.Lys277Arg

.

.

Pkinase_Tyr

 

VUS

PM2, PP3

a

AD667

TGFBR2

NM_003242

c.1188 T > G

p.Cys396Trp

.

.

Pkinase_Tyr

 

VUS

PM2, PP3

 

AD1162

TGFBR2

NM_003242

c.1254G > T

p.Gln418His

.

.

Pkinase_Tyr

Maternal

VUS

PM2, PP3

 

AD324

SMAD3

NM_005902

c.5C > T

p.Ser2Leu

.

.

 

Paternal

VUS

PM2

ab

AD1250

SMAD3

NM_001145103

c.53G > A

p.Arg18Gln

.

.

  

VUS

NA

 

AD76

SMAD3

NM_005902

c.140_148del

p.47_50del

.

.

  

VUS

PM2, PM4, BS2

a

AD997

SMAD3

NM_005902

c.364G > A

p.Val122Met

.

.

  

VUS

PM2, PP3

 

AD850

SMAD3

NM_005902

c.773A > T

p.Asp258Val

.

.

  

VUS

PM2, PP3

 

AD1288

SMAD3

NM_005902

c.1027 T > C

p.Phe343Leu

.

.

  

VUS

PM2, PP3

 

AD148

SMAD3

NM_005902

c.1027 T > C

p.Phe343Leu

.

.

  

VUS

PM2, PP3

 

AD1759

TGFB2

NM_003238

c.893G > A

p.Arg298Gln

0.0000221

0.0002

 

NA

VUS

NA

 

AD1599

TGFB2

NM_003238

c.1239C > G

p.Cys413Trp

.

.

  

VUS

PM2, PP3

 

AD985

TGFB3

NM_003239

c.352 + 5G > A

 

.

.

  

VUS

PM2, PP3

 
  1. Note: NA not available; MAF in ExAC was the maximal allele frequency from the public version (20160423), and MAF in gnomAD was the maximal allele frequency from gnomAD v2.1.1; P, pathogenic; LP, likely pathogenic; VUS, variant of uncertain significance; a, reported in our previous article [11]; bThis variant was previously misclassified as likely pathogenic [11], and now corrected into VUS
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172