Sugi Variant

Sugi Variant/ADD3

ADD3 — 247 ClinVar variants

All ClinVar germline ADD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

1 Pathogenic/Likely pathogenic · 3 Conflicting · 7 Benign · 3 Benign/Likely benign · 71 Likely benign · 162 Uncertain significance

Full ADD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 1

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 99

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

Predictors split 56

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

All ADD3 variants

Pathogenic/Likely pathogenic 1

  • p.Gly367Asp Multiple submitters cerebral palsy, spastic quadriplegic, 3

Conflicting classifications of pathogenicity 3

Benign 7

Benign/Likely benign 3

Likely benign 71

Uncertain significance 162