Table 1 Summary of the novel TSC2 variant
From: A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
| Gene | TSC2 | |
|---|---|---|
| Inheritance | de novo | |
| Location | Exon35 | |
| Clinical significance | Likely pathogenic [PS2, PM2, PM5, PP3] | |
| In silico analysis | Polyphen2 | Probably damaging (score:0.999 for sensitivity 0.14 and specificity 0.95) |
| Mutation Taster | Disease causing (prob: 0.999); | |
| Amino acid sequence changed; | ||
| Known disease mutation at this position (HGMD CM091108); | ||
| Protein features (might be) affected; | ||
| Splice site changes | ||
| PROVEAN | Deleterious (score: −5.807) | |
| Population frequency | 1000 Genomes | Absence |
| ExAC | Absence | |