Table 2 NCVAS Identified in UTHealth Sporadic Dissection Cases

From: Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Cohort

Gene

Coding DNA Change

Protein Change

gnomAD MAF

SpliceAI Score

ACMG Classification

ACMG Evidence

ESTAD

FBN1

c.4747+5 G > C

p.?

0

0.95

Likely pathogenic

PM2_supp, PP3, PS1

ESTAD

FBN1

c.1837+5 G > A*

p.?

1.24×10-6

0.83

Pathogenic

PS3, PS4, PP4

ESTAD

FBN1

c.4943-9 G > A

p.?

0

1

VUS

PM2_supp, PP3

ESTAD

SMAD3

c.401-6 G > A

p.Val134Aspfs*339

0

1

Pathogenic

PVS1, PM2_supp, PP4

ESTAD

COL3A1

c.898-14 A > G

p.?

2.60×10-5

0.48

VUS

PP3

Clinical Testing

FBN1

c.2294-3 C > A

p.?

0

0.45

VUS

PM2_supp, PP3

Clinical Testing

FBN1

c.7820-3 C > A

p.?

0

0.88

VUS

PM2_supp, PP3, PP4, PS2_mod

  1. ESTAD early-onset sporadic dissections cases, MAF minor allele frequency *variant identified in two unrelated individuals, VUS variant of uncertain significance.
Back to article page