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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
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