Sugi Variant

Sugi Variant/ADAMTS3

ADAMTS3 — 224 ClinVar variants

All ClinVar germline ADAMTS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

3 Pathogenic · 3 Conflicting · 16 Benign · 2 Benign/Likely benign · 27 Likely benign · 173 Uncertain significance

Full ADAMTS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 3

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

Predictors lean, ClinVar uncertain 114

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

Predictors split 61

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

All ADAMTS3 variants

Pathogenic 3

  • p.Arg94Ter Single submitter Inborn genetic diseases
  • p.Ile291Thr No assertion criteria hennekam lymphangiectasia-lymphedema syndrome 3
  • p.Leu168Pro No assertion criteria hennekam lymphangiectasia-lymphedema syndrome 3

Conflicting classifications of pathogenicity 3

Benign 16

Benign/Likely benign 2

  • c.1746-5T>G Multiple submitters
  • c.661+7G>A Multiple submitters hennekam lymphangiectasia-lymphedema syndrome 3

Likely benign 27

Uncertain significance 173