Table 2.
The pathogenic analysis of variants in the ETFDH gene
| Novel variants | Protein change | gnomAD (frequency) | PolyPhen-2 | SIFT | Mutation Taster | ACMG criteria |
|---|---|---|---|---|---|---|
| c.34G > C | p.A12P | 0.000003978 | 1.00 | 0.00 | disease causing | likely pathogenic |
| c.265_266delCA | p.Q89Vfs*5 | 0 | – | – | disease causing | pathogenic |
| c.736G > A | p.E246K | 0 | 0.959 | 0.01 | disease causing | pathogenic |
| c.1211 T > C | p.M404 T | 0.00000796 | 0.989 | 0.00 | disease causing | pathogenic |
gnomAD Genome aggregation database, SIFT sorting tolerant from intolerant, ACMG American college medical genetics and genomics criteria
*Indicates at which codon position the new reading frame ends in a stop codon