Sugi Variant

Sugi Variant/IGFBP7

IGFBP7 — 43 ClinVar variants

All ClinVar germline IGFBP7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Benign · 2 Likely benign · 35 Uncertain significance

Full IGFBP7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 35

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 27

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

Predictors split 7

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

All IGFBP7 variants

Pathogenic 1

  • p.Gly277Ser No assertion criteria familial retinal arterial macroaneurysm ⚠

Pathogenic/Likely pathogenic 1

  • c.830-1G>A Multiple submitters familial retinal arterial macroaneurysm

Benign 4

Likely benign 2

Uncertain significance 35