Table 3.
Molecular analysis and predicted pathogenicity of novel variants in our cohort.
| Exon | DNA changes | Amino acid changes | Database | In silico analysis | De novo | GERP | ACMG | Phenotype | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| dbSNP | ExAc | 1000G | Poyphen-2 | SIFT-2 | Mutation Taster | |||||||
| 4 | c.295G>A | p.Val99Met | – | 0 | 0 | Probably damaging | Damaging | Disease causing | No | 5.5 | LP | Pure CMT2A |
| 19 | c.2256C>G | p.Tyr752* | rs863224968 | 0 | 0 | – | – | Disease causing | Yes | 5.39 | P | Complex CMT2A |
| 9 | c.826_827insGGC | p.Arg275_Gln276insArg | – | 0 | 0 | – | – | Disease causing | No | – | LP | Pure CMT2A |
| intro5 | c.475-2A>G | Splicing | rs1557522794 | 0 | 0 | – | – | Disease causing | No | 5.3 | LP | Complex CMT2A,late-onset |
ExAC, Exome Aggregation Consortium; ACMG, American College of Medical Genetics and Genomics; CMT2A, Charcot–Marie–Tooth disease type 2A; LP, likely pathogenic; P, pathogenic.