Sugi Variant

Sugi Variant/TACO1

TACO1 — 178 ClinVar variants

All ClinVar germline TACO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 7 Conflicting · 9 Benign · 2 Benign/Likely benign · 47 Likely benign · 97 Uncertain significance

Full TACO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 3

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

Predictors lean, ClinVar uncertain 65

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

Predictors split 18

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

All TACO1 variants

Pathogenic 2

  • p.Arg141Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 8
  • p.Arg33fs Single submitter mitochondrial complex IV deficiency, nuclear type 1

Pathogenic/Likely pathogenic 1

  • c.280+1G>C Multiple submitters mitochondrial complex IV deficiency, nuclear type 8

Likely pathogenic 13

  • c.387+1G>A Single submitter
  • c.516-1G>A Single submitter mitochondrial complex IV deficiency, nuclear type 8
  • p.Arg25fs Single submitter mitochondrial complex IV deficiency, nuclear type 8
  • p.Asp195fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Cys85fs Single submitter
  • p.Glu123Ter Single submitter
  • p.Glu259Ter Single submitter mitochondrial complex IV deficiency, nuclear type 8
  • p.Glu76Ter Single submitter
  • p.Glu94Ter Single submitter mitochondrial complex IV deficiency, nuclear type 8
  • p.His158fs Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Leu207Pro Single submitter
  • p.Leu84_Cys85insTer Single submitter mitochondrial complex IV deficiency, nuclear type 8
  • p.Pro143fs Single submitter mitochondrial complex IV deficiency, nuclear type 8

Conflicting classifications of pathogenicity 7

  • p.Arg205His Single submitter Inborn genetic diseases ⚠
  • p.Arg25Gly Single submitter mitochondrial complex IV deficiency, nuclear type 8 ⚠
  • p.Glu151Lys Single submitter ⚠
  • p.His166= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Lys73= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Pro99= Single submitter mitochondrial complex IV deficiency, nuclear type 1
  • p.Ser248Ala Single submitter mitochondrial complex IV deficiency, nuclear type 1 ⚠

Benign 9

Benign/Likely benign 2

  • c.516-18T>A Multiple submitters
  • p.Leu109= Multiple submitters mitochondrial complex IV deficiency, nuclear type 8

Likely benign 47

Uncertain significance 97