Table 1.
Pathogenic variants identified in individuals with a clinical diagnosis of SOD.
| Family | Gene | Nucleotide Change | Predicted Effect | MAF 1 | ACMG/AMP Classification | Family History |
|---|---|---|---|---|---|---|
| 1 | SOX2 | NM_003106.4: c.70_89del20 | p.(Asn24Argfs*65) | NP | Pathogenic (PVS1, PS2, PM2, PP5) |
De Novo |
| 2 | SHH | NM_000193.2: c.562+1G>A | Abnormal splicing | NP | Pathogenic (PVS1, PS2, PM2, PP5) |
De Novo |
| 3 | ARID1A | NM_006015.6: c.6625C>T | p.(Gln2209*) | NP | Pathogenic (PVS1, PS2, PM2) |
De Novo |
1 Frequency in gnomAD v2.1.1; NP, not present.