Table 1 Percentage of probands for each molecular category.

From: Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

Variant class

Familial cases (n = 155)

Sporadic cases (n = 71)

Total (n = 226)

Class 4 and 5 variant

22% (n = 34)

11% (n = 8)

18% (n = 42)

Class 3 variant

7% (n = 11)

16% (n = 11)

10% (n = 22)

No variant

71% (n = 110)

73% (n = 52)

72% (n = 162)

  1. According to ACMG-AMP classification:15 class 5 for pathogenic variant, class 4 for probably pathogenic variant, class 3 for variant of unknown significance (VUS). Numbers in parentheses indicate the number of probands.
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