Sugi Variant

Sugi Variant/IGF2

IGF2 — 185 ClinVar variants

All ClinVar germline IGF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 7 Benign · 2 Benign/Likely benign · 44 Likely benign · 97 Uncertain significance

Full IGF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 8

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 64

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

Predictors split 8

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

All IGF2 variants

Pathogenic 14

Pathogenic/Likely pathogenic 1

Likely pathogenic 10

Conflicting classifications of pathogenicity 10

Benign 7

  • p.Ala78= Multiple submitters
  • p.Glu147= Multiple submitters
  • c.157+18G>C Single submitter
  • p.Thr30= Single submitter
  • c.-248-73= No assertion criteria INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM
  • c.*1958= No assertion criteria INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM
  • p.Pro13= No assertion criteria IGF2-related disorder

Benign/Likely benign 2

Likely benign 44

Uncertain significance 97