Sugi Variant

Sugi Variant/COA8

COA8 — 194 ClinVar variants

All ClinVar germline COA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 7 Conflicting · 23 Benign · 5 Benign/Likely benign · 65 Likely benign · 80 Uncertain significance

Full COA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 37

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

Predictors split 24

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

All COA8 variants

Pathogenic 7

  • p.Arg66Ter Multiple submitters mitochondrial complex IV deficiency, nuclear type 17
  • p.Lys120Ter Single submitter
  • p.Pro59fs Single submitter mitochondrial complex IV deficiency, nuclear type 17
  • p.Pro73fs Single submitter
  • p.Thr37fs Single submitter
  • c.124-1G>A No assertion criteria mitochondrial complex IV deficiency, nuclear type 17
  • p.Glu111del No assertion criteria mitochondrial complex IV deficiency, nuclear type 17

Pathogenic/Likely pathogenic 1

  • p.Leu15fs Multiple submitters mitochondrial complex IV deficiency, nuclear type 1

Likely pathogenic 6

  • p.Gln130Glu Single submitter mitochondrial complex IV deficiency, nuclear type 17 ⚠
  • p.Glu110Ter Single submitter mitochondrial complex IV deficiency, nuclear type 17
  • p.Gly41fs Single submitter mitochondrial complex IV deficiency, nuclear type 17
  • p.Lys118Ter Single submitter mitochondrial complex IV deficiency, nuclear type 17
  • p.Tyr62fs Single submitter
  • c.321+2T>A No assertion criteria mitochondrial complex IV deficiency, nuclear type 17

Conflicting classifications of pathogenicity 7

  • c.123+6C>T Single submitter mitochondrial complex IV deficiency, nuclear type 17
  • c.477-10T>C Single submitter
  • c.-10dup Single submitter Inborn genetic diseases
  • p.Asn64= Single submitter
  • p.Glu29Lys Single submitter mitochondrial complex IV deficiency, nuclear type 17 ⚠
  • p.Leu12= Single submitter
  • p.Phe105Ser No assertion criteria mitochondrial complex IV deficiency, nuclear type 17 ⚠

Benign 23

Benign/Likely benign 5

  • c.123+10G>A Multiple submitters mitochondrial complex IV deficiency, nuclear type 17
  • c.385+11T>G Multiple submitters
  • c.476+19C>T Multiple submitters mitochondrial complex IV deficiency, nuclear type 17
  • p.Asn75Ser Multiple submitters ⚠
  • p.Leu117= Multiple submitters mitochondrial complex IV deficiency, nuclear type 17

Likely benign 65

Uncertain significance 80