Table 1 Summary of the novel TSC2 variant

de novo

Exon35

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