Table 2 Novel variants observed in our patients
Family | Gene name | Mutation at DNA level | Mutation at protein level | Intron/exon number | DANN | HSF | FATHMM | GERP | Mutation taster | Zygosity | ACMG interpretation |
|---|---|---|---|---|---|---|---|---|---|---|---|
F24 | DYSF | c.4639-1G > A | – | 42 | 0.99 | Most probably affecting splicing | Damaging | 5.36 | Disease causing | Homo | Pathogenic (PVS1, PM2, PP3) |
F28 | SGCA | c.427C > A | p.His143Asn | 5 | 0.98 | – | Damaging | 4.3499 | Disease causing | Homo | Likely pathogenic (PS3, PM2, PP3, PP4) |
F29 | SGCA | c.687-688delTC | p.Leu230Valfs*13 | 6 | – | – | – | 5.1399 | Disease causing | Homo | Pathogenic (PVS1, PM2, PP4) |
F39 | SGCB | c.622-1G > C | – | 5 | 0.99 | Most probably affecting splicing | Damaging | 5.32 | Disease causing | Homo | Pathogenic (PVS1, PM2, PP3, PP4) |
F40 | SGCB | c.753 + 1G > A | – | 5 | 0.99 | Most probably affecting splicing | Damaging | 5.1199 | Disease causing | Homo | Pathogenic (PVS1, PM2, PP3, PP4) |