Sugi Variant

Sugi Variant/COX10

COX10 — 335 ClinVar variants

All ClinVar germline COX10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 26 Conflicting · 39 Benign · 13 Benign/Likely benign · 77 Likely benign · 165 Uncertain significance

Full COX10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 79

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

Predictors split 55

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

All COX10 variants

Pathogenic 4

  • p.Asn204Lys No assertion criteria mitochondrial complex IV deficiency, nuclear type 3
  • p.Asp336Gly No assertion criteria mitochondrial complex IV deficiency, nuclear type 3
  • p.Met1Thr No assertion criteria mitochondrial complex IV deficiency, nuclear type 3
  • p.Thr196Lys No assertion criteria mitochondrial complex IV deficiency, nuclear type 3

Pathogenic/Likely pathogenic 1

  • p.Asp336Val Multiple submitters mitochondrial complex IV deficiency, nuclear type 3

Likely pathogenic 10

  • p.Gln230Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 3
  • p.Pro225Leu Multiple submitters mitochondrial complex IV deficiency, nuclear type 3
  • c.177+1G>A Single submitter mitochondrial complex IV deficiency, nuclear type 3
  • c.928+1G>A Single submitter mitochondrial complex IV deficiency, nuclear type 3
  • c.929-2A>C Single submitter mitochondrial complex IV deficiency, nuclear type 3
  • p.Asn207fs Single submitter mitochondrial complex IV deficiency, nuclear type 3
  • p.Gln149Ter Single submitter
  • p.Lys138Ter Single submitter mitochondrial complex IV deficiency, nuclear type 3
  • p.Thr221Ala Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Trp286fs Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 26

Benign 39

Benign/Likely benign 13

  • c.696-11del Multiple submitters
  • c.-109G>A Multiple submitters
  • c.-63C>T Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.*1101C>T Multiple submitters Leigh syndrome
  • c.*438G>C Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • c.*974C>A Multiple submitters mitochondrial complex IV deficiency, nuclear type 1
  • p.Arg159Gln Multiple submitters Leigh syndrome
  • p.Cys16= Multiple submitters mitochondrial complex IV deficiency, nuclear type 3
  • p.Leu179= Multiple submitters mitochondrial complex IV deficiency, nuclear type 3
  • p.Ser346= Multiple submitters Leigh syndrome
  • p.Thr28Ile Multiple submitters Leigh syndrome
  • p.Tyr97Cys Multiple submitters Leigh syndrome
  • c.*1324C>T Single submitter mitochondrial complex IV deficiency, nuclear type 1

Likely benign 77

Uncertain significance 165