Sugi Variant

Sugi Variant/EIF2S3

EIF2S3 — 86 ClinVar variants

All ClinVar germline EIF2S3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 3 Benign · 4 Benign/Likely benign · 20 Likely benign · 47 Uncertain significance

Full EIF2S3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 43

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 23

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

Predictors split 18

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

All EIF2S3 variants

Pathogenic 3

Pathogenic/Likely pathogenic 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 4

Benign 3

Benign/Likely benign 4

Likely benign 20

Uncertain significance 47