Table 2 Pathogenicity of the novel variants.
Gene | Variant | Pathogenicity | Criteria |
|---|---|---|---|
SPAST | c.284delC (p.Ala95ArgfsTerm65*) | Pathogenic | PVS1, PM1, PM2, PM5, PP3 |
c.1107A > G (p.Thr369Thr) | Likely pathogenic | PM1, PM5, PP1, PP3 | |
c.1116A > T (p.Arg372Term) | Pathogenic | PVS1, PM1, PM2, PM5, PP3 | |
c.1162delA (p.Lys388ArgfsTerm8) | Pathogenic | PVS1, PM1, PM2, PM5, PP1, PP3 | |
c.1252G > A (p.Glu418Lys) | Likely pathogenic | PM1, PM2, PM5, PP2, PP3 | |
c.1271delG (p.Ala425LeufsTerm13) | Pathogenic | PVS1, PM1, PM2, PM5, PP3 | |
с.1391A > G (p.Glu464Gly) | Pathogenic | PS1, PM1,PM5, PP1, PP3 | |
c.1469delA (p.Glu491SerfsTerm39) | Pathogenic | PVS1, PM1, PM2 PM5, PP3 | |
c.1750_1751delGAinsT (p.Asp584Serfs*5) | Pathogenic | PVS1, PM1, PM2, PM5, PP3 | |
c.1840_1846del | Pathogenic | PVS1, PM1, PM4, PP3 | |
del.ex6-16 | Pathogenic | PVS1, PM1, PM4, PP3 | |
del.ex8-16 | Pathogenic | PVS1, PM1, PM4, PP3 | |
del.ex10-13 | Pathogenic | PVS1, PM1, PM4, PP3 | |
del.ex15-16 | Pathogenic | PVS1, PM1, PM4, PP3 | |
ATL1 | c.1041G > A (p.Met347Ile) | Likely pathogenic | PM1, PM2, PM5, PP3 |
c.1213G > A (p.Val405Met) | Likely pathogenic | PM1, PM2, PP1, PP3 |
