Table 2.
Causative variants only detected by the FJD-pipeline in the cancer and cardiovascular disease datasets as part of a systematic reanalysis of negative cases.
| Panel | Sample | Gene | Transcript | Nucleotide | Type | Inheritance | zygosity | Phenoty | Region | ACMG | ACMG Criteria | GnomAD AF |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TSCa | 18-0744 | RB1 | NM_000321.2 | c.1049 + 3 A > G | SNV | AD | HET | Retinoblastoma | Splicing | Likely Pathogenic | PM2, PP3, PP5 | - |
| 18-0871 | NF1 | NM_001042492.2 | c.7190-2 A > C | SNV | AD | HET | Neurofibromatosis type 1 | Splicing | Pathogenic | PVS1, PM2,PP3 | - | |
| NRC | 18-0910 | MYBPC3 | NM_000256.3 | c.1928-2 A > G | SNV | AD | HET | Arrhythmmia Disorder | Splicing | Pathogenic | PVS1, PP5, PM2,PP3 | - |
| 18-2249 | KCNH2 | NM_000238.4 | c.1557 + 1 G > C | SNV | AD | HET | Hypertrophic cariomyopathy | Splicing | Pathogenic | PVS1, PP5, PM2, PP3 | - |