Sugi Variant

Sugi Variant/ADAM22

ADAM22 — 176 ClinVar variants

All ClinVar germline ADAM22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

5 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 15 Benign · 5 Benign/Likely benign · 32 Likely benign · 114 Uncertain significance

Full ADAM22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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 lean, ClinVar uncertain 67

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

Predictors split 51

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

All ADAM22 variants

Pathogenic 5

  • c.1617+1G>A Single submitter developmental and epileptic encephalopathy, 61
  • p.Ser963Phe Single submitter developmental and epileptic encephalopathy, 61 ⚠
  • p.Arg954Ter No assertion criteria developmental and epileptic encephalopathy, 61
  • p.Cys401Tyr No assertion criteria developmental and epileptic encephalopathy, 61
  • p.Ser799fs No assertion criteria developmental and epileptic encephalopathy, 61

Likely pathogenic 4

  • c.2283-2del Single submitter developmental and epileptic encephalopathy, 61
  • p.Met661fs Single submitter developmental and epileptic encephalopathy, 61
  • p.Trp398Ser Single submitter
  • p.Ile752fs No assertion criteria ADAM22-related disorder

Conflicting classifications of pathogenicity 1

  • p.Thr578Met Single submitter developmental and epileptic encephalopathy, 61 ⚠

Benign 15

Benign/Likely benign 5

Likely benign 32

Uncertain significance 114