Table 1 Genetic variants in TBD patients.
TBD sample | Age | Gender | Variant | Symptoms | ACMG classification before TA analysis | RTL | SPF | TAadj | SD | Classification after TA analysis |
|---|---|---|---|---|---|---|---|---|---|---|
Sample 1 | 59 | F | TERT p.(Leu1017_Leu1019del) | Pulmonary fibrosis, pancytopenia, early graying of hair, osteoporosis | Likely pathogenic | 0.88 | 29.1 | 0.27 | 1–3 | Likely pathogenic |
Sample 2 | 64 | M | TERT p.(Asp684Gly) | Pulmonary fibrosis | Likely pathogenic | 1.07 | 32.9 | 0.15 | 1–3 | Likely pathogenic |
Sample 3 | 33 | F | TERT p.(Tyr1002Cys) | Pulmonary fibrosis, pancytopenia, early graying of hair, liver cirrhosis | Likely pathogenic | 1.10 | 35.0 | 0.04 | > 3 | Pathogenic |
Sample 4 | 79 | F | TERT p.(Tyr1002Cys) | Cancer, fragile nails, skin lesions, osteoporosis | Likely pathogenic | 1.03 | 33.0 | 0.07 | > 3 | Pathogenic |
Sample 5 | 43 | M | TERT p.(Arg865His) | Pulmonary fibrosis | Pathogenic | 1.22 | 22.0 | 0.05 | > 3 | Pathogenic |
Sample 6 | 54 | M | TERC n.64G > A | Pulmonary fibrosis, pancytopenia, renal failure | Likely pathogenic | 0.61 | 28.8 | 0.09 | > 3 | Pathogenic |
