Sugi Variant

Sugi Variant/ATXN7

ATXN7 — 230 ClinVar variants

All ClinVar germline ATXN7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 11 Benign · 1 Benign/Likely benign · 19 Likely benign · 192 Uncertain significance

Full ATXN7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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 1

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 120

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

Predictors split 62

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

All ATXN7 variants

Pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 4

Benign 11

Benign/Likely benign 1

Likely benign 19

Uncertain significance 192