Table 4 Variants identified by the NGS panel in this study. Variants of Uncertain Significance
Patient N° | Age-ranges onset (years) / sex | Gene | Nucleotide change | Protein change | Trait | Concordant phenotype | ExAC frequency | SIFT score | Polyphen 2 | Variant reported | Notes | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
34 | 1–16 / F | KIF1B | c.4682G > A | p.Cys1561Tyr | AD | Yes | < 0.01% | 0.02 | 0.987 | No | – | – |
35 | > 16 / F | POLG2 | c.390-2A > C | – | AD | Yes | 1 | – | – | No | + c.1105A > G htz (polymorphism) | – |
64 | > 16 / M | SYNE1 | c.23315G > A / c.15337G > A | p.Arg7772Gln / p.Val5113Ile | AR | Yes | < 0.01% < 0.01% | 0.01 0.29 | 0.956 0.968 | No Yes | c.15337G > A htz (patient’s daughter) | Neubauer et al., 2017 [17] |
66 | 1–16 / M | AIFM1 | c.893G > A | p.Arg298Gln | X-linked | +/− | < 0.01% | 0.63 | 0.402 | No | Mild phenotype | Ardissone et al., 2015 [9] |
67 | > 16 / M | DNA2 | c.2862G > C | p.Leu954Phe | AD | Yes | 0 | 0.0 | 0.669 | No | Severe phenotype | – |
71 | > 16 / F | KIF5A | c.1248A > T | p.Lys416Asn | AD | Yes | 0 | 0.01 | 0.935 | No | – | – |
77 | > 16 / M | KIF5A | c.2354A > G | p.Glu785Gly | AD | Yes | 0 | 0.0 | 0.999 | No | – | – |