Sugi Variant

Sugi Variant/GDF3

GDF3 — 90 ClinVar variants

All ClinVar germline GDF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

2 Likely pathogenic · 2 Conflicting · 9 Benign · 4 Benign/Likely benign · 14 Likely benign · 59 Uncertain significance

Full GDF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 2

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

Predictors agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 42

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

Predictors split 15

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

All GDF3 variants

Likely pathogenic 2

Conflicting classifications of pathogenicity 2

  • p.Arg195Gln Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg266Cys Single submitter Klippel-Feil syndrome 3, autosomal dominant ⚠

Benign 9

Benign/Likely benign 4

  • p.Arg195Trp Multiple submitters Klippel-Feil syndrome 3, autosomal dominant
  • p.Asn193= Multiple submitters Klippel-Feil syndrome 3, autosomal dominant
  • p.Gly213Arg Multiple submitters Klippel-Feil syndrome 3, autosomal dominant
  • p.Leu305Pro Multiple submitters Klippel-Feil syndrome 3, autosomal dominant ⚠

Likely benign 14

Uncertain significance 59