EIF4G3 — 184 ClinVar variants

All ClinVar germline EIF4G3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

1 Likely pathogenic · 1 Benign/Likely benign · 12 Likely benign · 170 Uncertain significance

Full EIF4G3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 164

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 lean, ClinVar uncertain 115

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

Predictors split 49

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

All EIF4G3 variants

Likely pathogenic 1

  • p.Lys1609fs Single submitter heparin cofactor 2 deficiency

Benign/Likely benign 1

Likely benign 12

Uncertain significance 170