Sugi Variant

Sugi Variant/CD247

CD247 — 195 ClinVar variants

All ClinVar germline CD247 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Conflicting · 25 Benign · 95 Likely benign · 66 Uncertain significance

Full CD247 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 56

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 lean, ClinVar uncertain 28

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

Predictors split 27

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

All CD247 variants

Pathogenic 7

  • p.Arg79Ter Single submitter immunodeficiency 25
  • p.Ile18fs Single submitter immunodeficiency 25
  • p.Gln70Leu No assertion criteria immunodeficiency 25 ⚠
  • p.Gln70Ter No assertion criteria immunodeficiency 25
  • p.Gln70Trp No assertion criteria immunodeficiency 25
  • p.Gln70Tyr No assertion criteria immunodeficiency 25
  • p.Met1Thr No assertion criteria immunodeficiency 25

Pathogenic/Likely pathogenic 1

  • p.Gln101Ter Multiple submitters severe combined immunodeficiency

Conflicting classifications of pathogenicity 1

  • c.58+8C>T Single submitter immunodeficiency 25

Benign 25

Likely benign 95

Uncertain significance 66