Clinical parameters and variants found in DCM patients
| DNA nr. | Gender | Age at diagnosis (years) | EF (%) | Gene | g.Var | Reference sequence | c.Var | p.Var | PolyPhen2 HumVar | PolyPhen2 HumDiv | Grantham dist | SIFT | AGVGD | Freq. in EVS (variant alleles/wt alleles) | Classification* | Additional information |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient 1 | F | 64 | ? | TNNI3 | 55665408 A>G | NM_000363.4 | 539A>G | p.Asp180Gly | Probably damaging | Possibly damaging | 94 | 0.04 | C0 | Not found | VUS2 | 3× DCM index patients,17 18 1 × LVNC.19 Mother of our index with clinical suspicion is not a carrier |
| Patient 2 | M | 51 | 17 | |||||||||||||
| Patient 3 | M | 44 | ? | EMD | 153609246 C>T | NM_000117.2 | 454C>T | p.Arg152Cys | Benign | Benign | 180 | 0.00 | C55 | Not found | VUS3 | No |
| Patient 4 | F | 50 | 13 | – | – | – | – | – | – | – | ||||||
| Patient 5 | M | 40 | 40 | – | – | – | – | – | – | – | ||||||
| Patient 6 | F | 29 | 37 | PLN | 118880124_ 118880126del | NM_002667.3 | 40_42del | p.Arg14del | Not looked at | Pathogenic | Founder in the Netherlands; mouse model+DCM family10; large DCM family.11 | |||||
| Patient 7† | F | 22 | 51 | SCN5A | 38595955 T>C | NM_198056.2 | 4628T>C | p.Val1543Ala | Benign | Benign | 64 | 0.00 | C65 | Not found | VUS2 | No |
| Patient 8 | F | 55 | 20 | – | – | – | – | – | – | – | ||||||
| Patient 9 | F | 28 | 35 | – | – | – | – | – | – | – | ||||||
| Patient 10 | F | 27 | 30 | MYH7 | 23901935 G>T | NM_000257.2 | 415G>T | p.Val139Leu | Probably damaging | Probably damaging | 32 | 0.00 | C0 | Not found | VUS3 | Found in 3 other index patients‡ |
| F | – | – | LAMP2 | 119581776 G>A | NM_002294.2 | 661G>A | p.Gly221Arg | Probably damaging | Probably damaging | 125 | 0.00 | C0 | 21/10542 | VUS2 | No | |
| Patient 11 | M | 56 | ? | – | – | – | – | – | – | – | ||||||
| Patient 12 | F | 52 | 38 | MYH7 | 23901935 G>T | NM_000257.2 | 415G>T | p.Val139Leu | Probably damaging | Probably damaging | 32 | 0.00 | C0 | Not found | VUS3 | Found in 3 other index patients‡ |
| Patient 13† | M | 40 | 47 | – | – | – | – | – | – | – | ||||||
| Patient 14 | M | 35 | 21 | SCN5A | 38593004 C>T | NM_198056.2 | 4859C>T | p.Thr1620Met | Probably damaging | Probably damaging | 81 | 0.00 | C65 | Not found | VUS3 | Large IVF family (monoallelic with rare polymorphism).13 Functional test not conclusive.12–16 |
| Patient 15 | F | 41 | 25 | – | – | – | – | – | – | – | ||||||
| Patient 16 | F | 73 | ? | LDB3 | 88451727 A>G | NM_007078.2 | 764A>G | p.Lys255Arg | Benign | Benign | 26 | 0.00 | C25 | Not found | VUS1 | Not |
| Patient 17 | V | 25 | 41 | PLN | 118880124_ 118880126del | 40_42del | p.Arg14del | Not looked at | Pathogenic | Founder in the Netherlands; mouse model+DCM family10; large DCM family.11 | ||||||
| Patient 18 | M | 49 | 37 | – | – | – | – | – | – | – | ||||||
| Patient 19§ | V | ? | ? | MYH7 | 23896054 T>C | NM_000257.2 | 1976T>C | p.Met659Thr | Probably damaging | Probably damaging | 81 | 0.00 | C65 | Not found | Pathogenic | Large family (co-segregation in 10 affected members)‡ |
*For further details see Methods section.
†Patient does not have observed dilatation yet but has a strong family history with DCM.
‡Identified in cardiomyopathy patients analysed during routine diagnostics in our laboratory.
§Patient also has hypertrophy so DCM could be a result of HCM.
DCM, dilated cardiomyopathy; EF, ejection fraction; HCM, hypertrophic cardiomyopathies; IVF, idiopathic ventricular fibrillation; LVNC, left ventricular non-compaction; n.a. not available; ?, decreased EF, no exact measurement performed.