Sugi Variant

Sugi Variant/TUBA1A

TUBA1A — 444 ClinVar variants

All ClinVar germline TUBA1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

62 Pathogenic · 46 Pathogenic/Likely pathogenic · 98 Likely pathogenic · 33 Conflicting · 11 Benign · 11 Benign/Likely benign · 91 Likely benign · 92 Uncertain significance

Full TUBA1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 11

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

Predictors agree, ClinVar conflicts 22

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 70

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

Predictors split 14

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

All TUBA1A variants

Pathogenic 62

Pathogenic/Likely pathogenic 46

Likely pathogenic 98

Conflicting classifications of pathogenicity 33

Benign 11

Benign/Likely benign 11

Likely benign 91

Uncertain significance 92