Sugi Variant

Sugi Variant/COQ7

COQ7 — 232 ClinVar variants

All ClinVar germline COQ7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 11 Conflicting · 19 Benign · 3 Benign/Likely benign · 81 Likely benign · 105 Uncertain significance

Full COQ7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 7

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

Predictors lean, ClinVar uncertain 62

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

Predictors split 15

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

All COQ7 variants

Pathogenic 8

  • p.Val141Glu Single submitter primary coenzyme Q10 deficiency 8
  • c.253-2A>T No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 9
  • p.Ala205fs No assertion criteria primary coenzyme Q10 deficiency 8
  • p.Leu111Pro No assertion criteria primary coenzyme Q10 deficiency 8
  • p.Leu156Arg No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 9
  • p.Leu156Gln No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 9
  • p.Met112Val No assertion criteria primary coenzyme Q10 deficiency 8 ⚠
  • p.Met1Val No assertion criteria neuronopathy, distal hereditary motor, autosomal recessive 9

Pathogenic/Likely pathogenic 1

  • p.Tyr212fs Multiple submitters primary coenzyme Q10 deficiency 8

Likely pathogenic 4

  • p.Arg16fs Single submitter primary coenzyme Q10 deficiency 8
  • p.Lys200fs Single submitter primary coenzyme Q10 deficiency 8
  • p.Met1Leu Single submitter primary coenzyme Q10 deficiency 8
  • p.Tyr164Ter Single submitter neuronopathy, distal hereditary motor, autosomal recessive 9

Conflicting classifications of pathogenicity 11

Benign 19

Benign/Likely benign 3

Likely benign 81

Uncertain significance 105