Sugi Variant

Sugi Variant/C8A

C8A — 439 ClinVar variants

All ClinVar germline C8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

19 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 7 Conflicting · 13 Benign · 13 Benign/Likely benign · 184 Likely benign · 195 Uncertain significance

Full C8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 195

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 2

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

Predictors lean, ClinVar uncertain 95

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

Predictors split 98

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

All C8A variants

Pathogenic 19

Pathogenic/Likely pathogenic 3

  • p.Arg498Ter Multiple submitters type I complement component 8 deficiency
  • p.Tyr210Ter Multiple submitters type I complement component 8 deficiency
  • p.Tyr384Ter Multiple submitters type I complement component 8 deficiency

Likely pathogenic 5

Conflicting classifications of pathogenicity 7

Benign 13

Benign/Likely benign 13

Likely benign 184

Uncertain significance 195