Sugi Variant

Sugi Variant/TIAM1

TIAM1 — 340 ClinVar variants

All ClinVar germline TIAM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 249 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 15 Benign · 61 Likely benign · 254 Uncertain significance

Full TIAM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 249

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 203

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 203

Predictors split 38

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

All TIAM1 variants

Pathogenic 4

  • p.Ala1339Val No assertion criteria neurodevelopmental disorder with language delay and seizures ⚠
  • p.Ala1547Glu No assertion criteria neurodevelopmental disorder with language delay and seizures ⚠
  • p.Gly328Val No assertion criteria neurodevelopmental disorder with language delay and seizures ⚠
  • p.Gly382Arg No assertion criteria neurodevelopmental disorder with language delay and seizures ⚠

Likely pathogenic 1

  • p.Ala668Gly Single submitter neurodevelopmental disorder with language delay and seizures ⚠

Conflicting classifications of pathogenicity 5

Benign 15

Likely benign 61

Uncertain significance 254