Sugi Variant

Sugi Variant/FXN

FXN — 165 ClinVar variants

All ClinVar germline FXN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

13 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 13 Conflicting · 28 Benign · 5 Benign/Likely benign · 37 Likely benign · 57 Uncertain significance

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

⚑ Evidence disagreements 57

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 9

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

Predictors lean, ClinVar uncertain 44

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

Predictors split 4

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

All FXN variants

Pathogenic 13

Pathogenic/Likely pathogenic 1

  • p.Leu4fs Multiple submitters Friedreich ataxia 1

Likely pathogenic 11

Conflicting classifications of pathogenicity 13

Benign 28

Benign/Likely benign 5

  • c.-7G>A Multiple submitters
  • p.Arg54= Multiple submitters Inborn genetic diseases
  • p.Asp178= Multiple submitters Inborn genetic diseases
  • p.Asp209Gly Multiple submitters Inborn genetic diseases
  • p.Leu156= Multiple submitters Inborn genetic diseases

Likely benign 37

Uncertain significance 57