Table 3.
TTN Variants of Uncertain Significance
| Subject, Sex | Exon Number | Canonical Isoform Nomenclature | Predicted Canonical Protein Isoform | Affecting N2BA & N2B | Protein Region | In Silico Tools | PSI | Population Database |
|---|---|---|---|---|---|---|---|---|
| 14, M | 29 | NM_001267550.1:c.6825del | NP_001254479.1(TTN):p.(Asp2275Glufs*2) | Both | I‐band | Pathogenic | 1.0 | Absent |
| 15, M | 154 | NM_001267550.1:c.80174_80202dup | NP_001254479.1(TTN):p.(Ser26735Glnfs*9) | Both | A‐band | Pathogenic | 1.0 | Absent |
| 16, M | Splice‐site (Intron 54) | NM_001267550.1:c.41609‐2A>G | NP_001254479.1(TTN):p.? | Both | N/A | Aberrant splicing | 1.0 | Absent |
| 17, M | 94 | NM_001267550.1:c.50170C>T | NP_001254479.1(TTN):p.(Arg16724*) | Both | A‐band | Pathogenic | 0.60 | Absent |
| 18, F | 29 | NM_001267550.1:c.60961_60962dupAA | NP_001254479.1(TTN):p.(Asn20321Lysfs*9) | Both | A‐band | Pathogenic | 1.0 | Absent |
| 19, M | 153 | NM_001267550.1:c.69422_69426delinsAAAAGGACCC | NP_001254479.1(TTN):p.(Gly23141Glufs*38) | Both | A‐band | Pathogenic | 0.48 | 0.04% |
| 20, F | 186 | NM_001267550.1:c.101107C>T | NP_001254479.1(TTN):p.(Arg33703*) | Both | M‐band | Pathogenic | 0.07 | Absent |
| 21, M | 9 | NM_001267550.1:c.50296C>T | NP_001254479.1(TTN):p.(Arg16766*) | Both | A‐band | Pathogenic | 0.64 | <0.00041% |
N∕A indicates not applicable; PSI, percentage spliced in.