Sugi Variant

Sugi Variant/CD3E

CD3E — 287 ClinVar variants

All ClinVar germline CD3E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

12 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 9 Conflicting · 26 Benign · 2 Benign/Likely benign · 145 Likely benign · 84 Uncertain significance

Full CD3E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 37

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

Predictors split 25

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

All CD3E variants

Pathogenic 12

  • c.49+1G>C Multiple submitters immunodeficiency 18
  • p.Leu58fs Multiple submitters
  • c.49+1G>A Single submitter immunodeficiency 18
  • p.Arg164Ter Single submitter immunodeficiency 18
  • p.Cys139fs Single submitter immunodeficiency 18
  • p.Gly143fs Single submitter immunodeficiency 18
  • p.Lys104Ter Single submitter immunodeficiency 18
  • p.Lys158Ter Single submitter immunodeficiency 18
  • p.Lys64Ter Single submitter immunodeficiency 18
  • p.Ser88fs Single submitter immunodeficiency 18
  • p.Thr43fs No assertion criteria Immunodeficiency 18, severe combined immunodeficiency variant
  • p.Trp59Ter No assertion criteria immunodeficiency 18

Pathogenic/Likely pathogenic 2

  • p.Thr44fs Multiple submitters immunodeficiency 18
  • p.Tyr96Ter Multiple submitters severe combined immunodeficiency

Likely pathogenic 7

Conflicting classifications of pathogenicity 9

Benign 26

Benign/Likely benign 2

Likely benign 145

Uncertain significance 84