Sugi Variant

Sugi Variant/TEAD1

TEAD1 — 290 ClinVar variants

All ClinVar germline TEAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →

1 Pathogenic · 10 Conflicting · 3 Benign · 8 Benign/Likely benign · 112 Likely benign · 156 Uncertain significance

Full TEAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 135

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 agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 98

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

Predictors split 30

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

All TEAD1 variants

Pathogenic 1

Conflicting classifications of pathogenicity 10

Benign 3

  • p.Ala185= Multiple submitters
  • p.Asp171= Multiple submitters helicoid peripapillary chorioretinal degeneration
  • c.331-907AT[4] Single submitter helicoid peripapillary chorioretinal degeneration

Benign/Likely benign 8

Likely benign 112

Uncertain significance 156