Table 2 The pathogenicity of the three variants in this study according to the latest ACMG guidelines
Patient ID | Variant information | Evidence of pathogenicity | ACMG classification |
|---|---|---|---|
Patient #1 | c.8310_8313delAGAT (p.Asp2771fs4*) | PVS1 + PM2_Supporting + PP4 | Pathogenic |
Patient #2 | |||
Patient #3 | c.2881 C > T (p.Arg961*) | PVS1 + PM2_Supporting + PS4 + PM3 + PP4 | Pathogenic |
c.6409 C > T (p.Gln2137*) | PVS1 + PM2_Supporting + PS4 + PM3 + PP4 | Pathogenic |