Sugi Variant

Sugi Variant/C7

C7 — 649 ClinVar variants

All ClinVar germline C7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 289 flagged for review →

36 Pathogenic · 7 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 10 Conflicting · 25 Benign · 10 Benign/Likely benign · 249 Likely benign · 294 Uncertain significance

Full C7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 289

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 8

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

Predictors lean, ClinVar uncertain 171

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 171

Predictors split 110

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

All C7 variants

Pathogenic 36

Pathogenic/Likely pathogenic 7

  • c.281-1G>T Multiple submitters complement component 7 deficiency
  • p.Arg402Ter Multiple submitters C7-related disorder
  • p.Asn136fs Multiple submitters C7-related disorder
  • p.Cys85fs Multiple submitters C7-related disorder
  • p.Gln271Ter Multiple submitters
  • p.Ser212fs Multiple submitters complement component 7 deficiency
  • p.Trp205Ter Multiple submitters complement component 7 deficiency

Likely pathogenic 18

Conflicting classifications of pathogenicity 10

Benign 25

Benign/Likely benign 10

Likely benign 249

Uncertain significance 294