Sugi Variant

Sugi Variant/ADAM10

ADAM10 — 114 ClinVar variants

All ClinVar germline ADAM10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

4 Pathogenic · 1 Conflicting · 27 Benign · 1 Benign/Likely benign · 13 Likely benign · 68 Uncertain significance

Full ADAM10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 lean, ClinVar uncertain 56

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

Predictors split 11

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

All ADAM10 variants

Pathogenic 4

  • p.Cys524Tyr No assertion criteria reticulate acropigmentation of Kitamura
  • p.Ser504Asn No assertion criteria reticulate acropigmentation of Kitamura ⚠
  • p.Thr422fs No assertion criteria reticulate acropigmentation of Kitamura
  • p.Tyr143Ter No assertion criteria reticulate acropigmentation of Kitamura

Conflicting classifications of pathogenicity 1

Benign 27

Benign/Likely benign 1

  • c.326-10T>C Multiple submitters reticulate acropigmentation of Kitamura

Likely benign 13

Uncertain significance 68