Sugi Variant

Sugi Variant/EIF2AK3

EIF2AK3 — 1000 ClinVar variants

All ClinVar germline EIF2AK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 345 flagged for review →

46 Pathogenic · 8 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 31 Conflicting · 30 Benign · 9 Benign/Likely benign · 427 Likely benign · 396 Uncertain significance

Full EIF2AK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 345

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 11

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

Predictors lean, ClinVar uncertain 303

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 303

Predictors split 31

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

All EIF2AK3 variants

Pathogenic 46

Pathogenic/Likely pathogenic 8

Likely pathogenic 53

Conflicting classifications of pathogenicity 31

Benign 30

Benign/Likely benign 9

  • c.1307-4T>G Multiple submitters Wolcott-Rallison syndrome
  • c.3088-24_3088-12del Multiple submitters Wolcott-Rallison syndrome
  • p.Ala52Thr Multiple submitters connective tissue disorder
  • p.Glu302Asp Multiple submitters Wolcott-Rallison syndrome
  • p.Glu672Lys Multiple submitters Wolcott-Rallison syndrome
  • p.Ile235= Multiple submitters
  • p.Lys513= Multiple submitters Wolcott-Rallison syndrome
  • p.Ser1097= Multiple submitters connective tissue disorder
  • p.Ser844= Multiple submitters connective tissue disorder

Likely benign 427

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 396

Showing the top 300 by review status; the full set is in the sitemap.