Table 4 NCVAS Identified in UTHealth HTAD Pedigrees

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

Pedigree

Phenotype

Gene

Coding DNA Change

Protein Change

gnomAD MAF

SpliceAI Score

ACMG Classification

ACMG Evidence

MFS

FBN1

c.6872-1003 C > T

p.?

0

0.39

VUS

PM2_supp, PP3, PP4

MFS

FBN1

c.1148-16 T > A

p.?

0

0.9

VUS

PM2_supp, PP3, PP4

  1. MFS Marfan syndrome, MAF minor allele frequency, VUS variant of uncertain significance.
Back to article page