Sugi Variant

Sugi Variant/TCP1

TCP1 — 81 ClinVar variants

All ClinVar germline TCP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 4 Likely benign · 69 Uncertain significance

Full TCP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 62

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All TCP1 variants

Pathogenic 6

  • p.Gln262Ter Single submitter
  • p.Lys159Arg Single submitter
  • p.Gln265fs No assertion criteria intellectual developmental disorder with polymicrogyria and seizures
  • p.Glu85fs No assertion criteria intellectual developmental disorder with polymicrogyria and seizures
  • p.Gly502fs No assertion criteria intellectual developmental disorder with polymicrogyria and seizures
  • p.Ser194_Val195insTer No assertion criteria intellectual developmental disorder with polymicrogyria and seizures

Likely pathogenic 2

  • p.Ala465fs Multiple submitters intellectual developmental disorder with polymicrogyria and seizures
  • p.Glu267Ter Single submitter intellectual developmental disorder with polymicrogyria and seizures

Likely benign 4

Uncertain significance 69