Sugi Variant

Sugi Variant/IFITM5

IFITM5 — 176 ClinVar variants

All ClinVar germline IFITM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 22 Conflicting · 24 Benign · 7 Benign/Likely benign · 47 Likely benign · 73 Uncertain significance

Full IFITM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 13

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 6

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

All IFITM5 variants

Pathogenic 2

  • c.-14C>T Multiple submitters IFITM5-related disorders
  • p.Ser40Leu Multiple submitters IFITM5-related disorders

Pathogenic/Likely pathogenic 1

  • p.Ser40Trp Multiple submitters osteogenesis imperfecta type 5

Conflicting classifications of pathogenicity 22

Benign 24

Benign/Likely benign 7

  • p.Asp117Gly Multiple submitters Inborn genetic diseases
  • p.Lys81Arg Multiple submitters Inborn genetic diseases
  • p.Pro29= Multiple submitters osteogenesis imperfecta
  • p.Pro31Thr Multiple submitters osteogenesis imperfecta type 5
  • p.Pro32= Multiple submitters
  • p.Thr14= Multiple submitters osteogenesis imperfecta
  • p.Thr14Met Multiple submitters

Likely benign 47

Uncertain significance 73