Sugi Variant

Sugi Variant/COA6

COA6 — 74 ClinVar variants

All ClinVar germline COA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 17 Benign · 1 Benign/Likely benign · 26 Likely benign · 24 Uncertain significance

Full COA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 22

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 lean, ClinVar uncertain 12

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

Predictors split 10

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

All COA6 variants

Pathogenic 2

  • p.Trp89Cys No assertion criteria cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
  • p.Trp96Arg No assertion criteria cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Likely pathogenic 3

  • c.212+163G>A Single submitter
  • p.Arg92fs Single submitter
  • p.Lys140fs Single submitter cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4

Conflicting classifications of pathogenicity 1

Benign 17

Benign/Likely benign 1

  • c.212+162G>A Multiple submitters cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 ⚠

Likely benign 26

Uncertain significance 24