Sugi Variant

Sugi Variant/EIF3F

EIF3F — 84 ClinVar variants

All ClinVar germline EIF3F variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 20 Likely benign · 51 Uncertain significance

Full EIF3F gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 52

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 20

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

Predictors split 32

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

All EIF3F variants

Pathogenic 1

  • p.Gln288fs No assertion criteria intellectual developmental disorder, autosomal recessive 67

Pathogenic/Likely pathogenic 1

  • p.Phe232Val Multiple submitters neurodevelopmental disorder

Likely pathogenic 2

  • p.Gln61Ter No assertion criteria intellectual developmental disorder, autosomal recessive 67
  • p.Pro224Leu No assertion criteria intellectual developmental disorder, autosomal recessive 67

Benign 8

  • c.*24C>T Multiple submitters intellectual developmental disorder, autosomal recessive 67
  • p.His187= Multiple submitters intellectual developmental disorder, autosomal recessive 67
  • c.996+9C>T No assertion criteria EIF3F-related disorder
  • p.Ala114= No assertion criteria EIF3F-related disorder
  • p.Ala76Gly No assertion criteria EIF3F-related disorder
  • p.Pro12Leu No assertion criteria EIF3F-related disorder ⚠
  • p.Pro39Leu No assertion criteria EIF3F-related disorder ⚠
  • p.Ser45Leu No assertion criteria EIF3F-related disorder ⚠

Benign/Likely benign 1

Likely benign 20

Uncertain significance 51