Table 2 Pathogenicity of the KIF1A novel variants
From: KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Family | Variant | Exon | Pathogenicity | Criteria |
|---|---|---|---|---|
30–2 | c.37C > T p.Arg13Cys | 2 | Likely pathogenic | PS2, PM1, PM2, PP3 |
30–7 | c.607A > G p.Arg203Gln | 6 | Likely pathogenic | PS2, PM1, PM2, PP3 |
30–9 | c.798 + 1G > T | 8 | Pathogenic | PVS1, PS2, PM1, PM2, PP3 |
30–10 | c.917A > G p.Tyr306Cys | 11 | Likely pathogenic | PS2, PM1, PM2, PP3 |