TABLE II.
Gene and Case | Genomic Position | Base Change | Protein Change | Frequency in ExAC Database | Sex | Curve‡ | Height§ | Weight§ | Ghent Systemic Score# | Beighton Score# | Genetics Evaluation and Echocardiogram** | Interpretation | Reference |
COL3A1 | |||||||||||||
6294001 | chr2:189856935 | G > A | R326Q | 1 of 122,932 | F | 69 | 7 | 67 | NA | NA | N | VUS | |
6292001 | chr2:189873814 | C > G | N1230K | F | 48 | 38 | 25 | 1 | 1 | N | VUS | ||
6388001 | chr2:189876375 | A > G | K1426E | F | 50 | 93 | 96 | 3 | 0 | N | VUS | ||
FBN1 | |||||||||||||
6128001 | chr15:48902952 | T > A | I107L | F | 84 | 20 | 21 | NA | NA | N | VUS | ||
6340001 | chr15:48826300 | T > G | N280T | M | 48 | >99 | 99 | 3 | 0 | Y | VUS | ||
6377001 | chr15:48795990 | T > G | N703H | F | 50 | 57 | 62 | 1 | 1 | Y | VUS | ||
6623001 | chr15:48791223 | G > T | A709E | F | 85 | 93 | >99 | NA | NA | N | VUS | Single report, no details16 | |
6623001 | chr15:48791224 | C > T | A709T | F | 85 | 93 | >99 | NA | NA | N | VUS | ||
6683001 | chr15:48787732 | T > C | P825A | 1 of 122,446 | F | 90 | 66 | 44 | 3 | 1 | N | VUS | Patient with aortic dilation, skeletal features, and ectopia lentis31, patient with isolated ectopia lentis32 |
6556001 | chr15:48779275 | C > T | V1197I | 6 of 122,898 | F | 77 | 38 | 95 | 3 | 3 | N | VUS | |
6226001 | chr15:48764870 | A > C | L1405R | 6 of 122,898 | F | 97 | 91 | 85 | 2 | 4 | Y | VUS | Single report, no details16 |
6272001 | chr15:48760155 | A > G | M1576T | 10 of 122,930 | F | 90 | 21 | 40 | NA | NA | N | VUS | Two patients with isolated aortic aneurysm17,21 |
6418001 | chr15:48760155 | A > G | M1576T | 10 of 122,930 | F | 65 | >99 | 87 | 4 | 1 | Y | VUS | Two patients with isolated aortic aneurysm17,21 |
6442001 | chr15:48760155 | A > G | M1576T | 10 of 122,930 | F | 35 | 89 | 89 | 5 | 4 | Y | VUS | Two patients with isolated aortic aneurysm17,21 |
6320001 | chr15:48736768 | C > T | G2003R | F | 66 | 7 | 30 | 4 | 0 | N | VUS | ||
6111001 | chr15:48725128 | T > A | Y2225F | M | 95 | 93 | 86 | 5 | 2 | Y | VUS | ||
6386001 | chr15:48712949 | A > G | I2585T | F | 93 | 98 | 92 | 10 | 2 | Y** | Pathogenic | Patients with Marfan syndrome16-18 | |
6674001 | chr15:48073503 | T > C | N2767S | 4 of 122,914 | F | 50 | 42 | 31 | 5 | 2 | N | VUS | Single report, no details16 |
6005001 | chr15:48703201 | C > T | 2868I | M | 55 | 91 | 95 | 6 | 9 | Y | VUS | ||
SMAD3 | |||||||||||||
6234001 | chr15:67457343 | T > C | M1T | M | 80 | 75 | 97 | NA | NA | Y | Pathogenic | ||
6281001 | chr15:67473717 | C > A | S161* | F | 70 | 97 | 78 | NA | NA | N | Pathogenic |
NA = not available and VUS = variant of unknown significance.
The values are given in degrees.
The values are given in percentiles.
The values are the scores, given in points.
The aorta was dilated on an echocardiogram.