Table 3 NCVAS Identified in Validation Dissection Cohorts

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

UKB

SMAD3

c.838 A > T

p.Asn280Tyr

6.20×10-7

1

VUS

PM2_supp, PP3

UKB

SMAD3

c.658+3758 A > T

p.?

0

0.98

VUS

PM2_supp, PP3

UKB

COL3A1

c.898-14 A > G

p.?

2.60×10-5

0.48

VUS

PP3

UKB

FBN1

c.5788+5 G > A

p.Asp1891_Asp1930del54

2.53×10-6

0.47

Pathogenic

PS3, PS4, PP4, PM2_supp

UKB

MYLK

c.4289-3 C > G

p.?

3.14×10-6

0.43

VUS

PM2_supp, PP3

UKB

FBN1

c.6163+2dupT

p.?

2.73×10-5

0.37

VUS

PP3

UKB

FBN1

c.862+566_862+570del

p.?

0

0.31

VUS

PM2_supp, PP3

UKB

TGFB2

c.643+45 C > T

p.?

6.20×10-7

0.24

VUS

PM2_supp, PP3

UKB

TGFB2

c.756 T > C

p.Gly252Gly

1.25×10-6

0.2

VUS

PM2_supp, PP3

PMBB

FBN1

NA

NA

0

0.78

Likely Pathogenic

PM2_supp, PP3, PP4, PP1, PS4_mod

PMBB

FBN1

NA

NA

6.57×10-6

0.47

VUS

PM2_supp, PP3

PMBB

SMAD3

NA

NA

0

0.22

VUS

PM2_supp, PP3

  1. UKB UK Biobank, PMBB Penn Medicine BioBank, MAF minor allele frequency, NA variant level data not available for PMBB, VUS variant of uncertain significance.
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