Sugi Variant

Sugi Variant/GDF1

GDF1 — 276 ClinVar variants

All ClinVar germline GDF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

11 Pathogenic · 4 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 11 Conflicting · 9 Benign · 6 Benign/Likely benign · 82 Likely benign · 135 Uncertain significance

Full GDF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 23

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

All GDF1 variants

Pathogenic 11

Pathogenic/Likely pathogenic 4

  • p.Cys227Ter Multiple submitters CERS1 & GDF1-related disorders
  • p.Met364Thr Multiple submitters right atrial isomerism
  • p.Phe349fs Multiple submitters congenital heart defects, multiple types, 6
  • p.Val304fs Multiple submitters GDF1-RELATED DISORDERS

Likely pathogenic 18

Conflicting classifications of pathogenicity 11

Benign 9

Benign/Likely benign 6

Likely benign 82

Uncertain significance 135