Mutations identified as possible causes of dilated cardiomyopathy
| Gene | Mutation | Bioinformatics information | Disease-causing | Previously reported | |
|---|---|---|---|---|---|
| PolyPhen2 | SIFT | ||||
| LMNA | c.642delG (p.E214DfsX266) | – | – | Definitely (premature stop codon) | No |
| LMNA | c.886–887insA (p.R296QfsX35 | – | – | Definitely (premature stop codon) | No |
| LMNA | c.986G>A (p.R329H) | Benign | Not tolerated | Possibly | No |
| MYH7 | c.2945T>C (p.M982T) | Probably damaging | Not tolerated | Probably | Yes10 |
| MYH7 | c.3818T>C (p.L1273P) | Probably damaging | Not tolerated | Probably | Yes11 |
| MYH7 | c.4076G>A (p.R1359H) | Probably damaging | Not tolerated | Probably | No |
| MYH7 | c.5287G>A (p.A1763T) | Possibly damaging | Not tolerated | Probably | Yes11 |
| TNNT2 | c.421delC (p.R141GfsX41) | – | – | Definitely (premature stop codon) | Yes12 |
| MYL3 | c.65C>T (p.A22V) | Benign | Not tolerated | Possibly | No |
| MYL3 | c.400G>T (p.V134L) | Benign | Tolerated | Possibly not | No |
The reference sequences used for nucleotide numbering are LMNA: NM_005572.3, MYH7: NM_000257.2, TNNT2: NM_001001430.1 and MYL3: NM_000258.2.