Sugi Variant

Sugi Variant/EEF1B2

EEF1B2 — 33 ClinVar variants

All ClinVar germline EEF1B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →

3 Pathogenic · 1 Benign · 3 Likely benign · 26 Uncertain significance

Full EEF1B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 26

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 9

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

Predictors split 17

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

All EEF1B2 variants

Pathogenic 3

  • c.80+1G>C Single submitter Global developmental delay
  • p.Ser128Ter Single submitter intellectual disability
  • p.Tyr62Ter Single submitter Global developmental delay

Benign 1

Likely benign 3

Uncertain significance 26