Table 2.
Novel potential pathogenic variants identified in the study
| Gene | Exon | DNA change | Protein change | Function | Number | Prediction | ACMG classification | ||
|---|---|---|---|---|---|---|---|---|---|
| PolyPhen | SIFT | Mutation Taster | |||||||
| LDLR | |||||||||
| 3 | c.285C > G | p.C95W | nonsynonymous | 1 | probably damaging | damaging | disease causing | PM2;PM5;PP3 | |
| 3 | c.302A > T | p.E101V | nonsynonymous | 1 | probably damaging | damaging | disease causing | PM2;PP3 | |
| 4 | c.393delC | p.D131fs | frameshift deletion | 1 | NA | NA | NA | PVS;PM2 | |
| 4 | c.524A > G | p.D175G | nonsynonymous | 1 | probably damaging | tolerated | disease causing | PM2 | |
| 5 | c.728G > A | p.C243Y | nonsynonymous | 1 | probably damaging | damaging | disease causing | PM2;PP3 | |
| 9 | c.1206delC | p.F402 fs | frameshift deletion | 1 | NA | NA | NA | PVS;PM2 | |
| 13 | c.1934A > T | p.N645I | nonsynonymous | 1 | possibly damaging | damaging | disease causing | PM2;PP3 | |
| APOB | |||||||||
| 26 | c.10093C > G | p.H3365D | nonsynonymous | 1 | probably damaging | damaging | polymorphism | PM2 | |
NA not applicable, LDLR low-density lipoprotein receptor, APOB apolipoprotein B