Sugi Variant

Sugi Variant/COQ8B

COQ8B — 323 ClinVar variants

All ClinVar germline COQ8B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →

20 Pathogenic · 8 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 21 Conflicting · 19 Benign · 19 Benign/Likely benign · 122 Likely benign · 102 Uncertain significance

Full COQ8B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 106

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 11

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 37

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

All COQ8B variants

Pathogenic 20

Pathogenic/Likely pathogenic 8

  • c.367+1G>A Multiple submitters nephrotic syndrome, type 9
  • c.893+2T>A Multiple submitters nephrotic syndrome, type 9
  • p.Arg178Trp Multiple submitters ADCK4 & COQ8B-related disorders ⚠
  • p.Arg362Ter Multiple submitters nephrotic syndrome, type 9
  • p.Arg477Gln Multiple submitters nephrotic syndrome, type 9
  • p.Glu447fs Multiple submitters nephrotic syndrome, type 9
  • p.Glu483Ter Multiple submitters ADCK4 & COQ8B-related disorders
  • p.Gln452fs No assertion criteria nephrotic syndrome, type 9

Likely pathogenic 12

Conflicting classifications of pathogenicity 21

Benign 19

Benign/Likely benign 19

Likely benign 122

Uncertain significance 102