Sugi Variant

Sugi Variant/COA7

COA7 — 78 ClinVar variants

All ClinVar germline COA7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →

5 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 3 Benign · 2 Benign/Likely benign · 30 Likely benign · 34 Uncertain significance

Full COA7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 35

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 1

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

Predictors lean, ClinVar uncertain 25

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

Predictors split 8

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

All COA7 variants

Pathogenic 5

  • c.247+1G>T No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • p.Asp6Gly No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 ⚠
  • p.Gly144fs No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • p.Ser149Ile No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • p.Tyr137Cys No assertion criteria spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 ⚠

Likely pathogenic 3

  • c.107-2A>G Single submitter
  • p.Asp33fs Single submitter spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3
  • p.Ile184fs Single submitter

Conflicting classifications of pathogenicity 1

Benign 3

Benign/Likely benign 2

Likely benign 30

Uncertain significance 34