Sugi Variant

Sugi Variant/IL7R

IL7R — 578 ClinVar variants

All ClinVar germline IL7R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

40 Pathogenic · 7 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 18 Conflicting · 65 Benign · 3 Benign/Likely benign · 219 Likely benign · 212 Uncertain significance

Full IL7R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 106

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

Predictors split 54

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

All IL7R variants

Pathogenic 40

Pathogenic/Likely pathogenic 7

  • c.221+2T>A Multiple submitters immunodeficiency 104
  • p.Gln156Ter Multiple submitters immunodeficiency 104
  • p.Glu72Ter Multiple submitters immunodeficiency 104
  • p.Ile94fs Multiple submitters severe combined immunodeficiency
  • p.Leu263Ter Multiple submitters severe combined immunodeficiency
  • p.Phe146fs Multiple submitters immunodeficiency 104
  • p.Trp178Ter Multiple submitters immunodeficiency 104

Likely pathogenic 14

Conflicting classifications of pathogenicity 18

Benign 65

Benign/Likely benign 3

  • c.*42A>G Multiple submitters immunodeficiency 104
  • p.Asn396= Multiple submitters immunodeficiency 104
  • p.Lys187= Multiple submitters immunodeficiency 104

Likely benign 219

Uncertain significance 212