Table 3.
Variants detected in associated PAH forms (APAH). Description of variants found in patients with APAH, specifically with congenital heart disease (CHD) and connective tissue disease (CTD). ID: patient identifier, GT: genotype, ACMG: American College of Medical Genetics. Hom: homozygous; Het: heterozygous; P: pathogenic; VUS: variant of unknown significance.
| ID | PAH Etiology | cDNA and Protein Position | GT | ACMG Classification |
|---|---|---|---|---|
| HTP501 | CHD | CPS1:NM_001122633.2(CPS1):c.3047C>T:p.(Thr1016Met) | Hom | VUS |
| HTP536 | CHD | BMPR2:NM_001204.6:c.2674delG: p.(Glu892Asnfs*4) | Het | P |
| HTP541 | CHD | BMPR2:NM_001204.6:c.2674delG: p.(Glu892Asnfs*4) | Het | P |
| HTP474 | CHD |
ABCC8:NM_000352.4(ABCC8):c.3394G>A:p.(Asp1132Asn) SARS2:NM_017827.3:c.136G>A:p.(Glu46Lys) |
Het Het |
VUS |
| HTP558 | CHD | SMAD5:NM_001001420.2:c.763A>G:p.(Ile255Val) | Het | VUS |
| HTP262 | CHD | NOTCH3:NM_000435.3:c.6097C>G:p.(Pro2033Ala) | Het | VUS |
| HTP472 | CHD | CPS1:NM_001122633.2:c.1036G>A:p.(Ala346Thr) | Het | VUS |
| HTP611 | CHD |
TBX4:NM_018488.3:c.1018C>T:p.(Arg340*) SMAD1:NM_005900.2:c.738G>C:p.(Met246Ile) |
Het Het |
P VUS |
| HTP551 | CTD | GDF2:NM_016204:c.642G>A:p.(Trp214*) | Het | VUS |
| HTP355 | CTD | CPS1:NM_001875.4:c.4252C>T:p.(Pro1418Ser) | Het | VUS |
| HTP452 | CTD | NOTCH3:NM_000435:c.5203G>A:p.(Glu1735Lys) | Het | VUS |
| HTP564 | CTD | TBX4:NM_018488.2:c.1112dupC:p.(Pro372Serfs*14) | Het | P |
| HTP78 | CTD | ABCC8:NM_000352.3:c.2694+1G>A | Het | VUS |