Sugi Variant

Sugi Variant/MMP20

MMP20 — 204 ClinVar variants

All ClinVar germline MMP20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 99 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 8 Conflicting · 48 Benign · 3 Benign/Likely benign · 9 Likely benign · 123 Uncertain significance

Full MMP20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 99

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 agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 17

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

All MMP20 variants

Pathogenic 7

  • c.954-2A>T Multiple submitters MMP20-related disorder
  • c.809_811+12delinsCCAG No assertion criteria amelogenesis imperfecta hypomaturation type 2A2
  • p.Gln374His No assertion criteria amelogenesis imperfecta hypomaturation type 2A2 ⚠
  • p.His204Arg No assertion criteria amelogenesis imperfecta hypomaturation type 2A2
  • p.His226Gln No assertion criteria amelogenesis imperfecta hypomaturation type 2A2
  • p.Ser237Tyr No assertion criteria amelogenesis imperfecta hypomaturation type 2A2
  • p.Trp34Ter No assertion criteria amelogenesis imperfecta hypomaturation type 2A2

Pathogenic/Likely pathogenic 1

  • p.Glu209Gln Multiple submitters amelogenesis imperfecta hypomaturation type 2A2

Likely pathogenic 5

  • p.Asn120fs Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Gln376Ter Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Leu189Pro Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Lys421Ter Single submitter MMP20-related disorder
  • p.Tyr454Ter Single submitter amelogenesis imperfecta hypomaturation type 2A2

Conflicting classifications of pathogenicity 8

  • p.Ala304Thr Single submitter amelogenesis imperfecta hypomaturation type 2A2 ⚠
  • p.Arg35= Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Gly438Ala Single submitter amelogenesis imperfecta hypomaturation type 2A2 ⚠
  • p.Met92Val Single submitter amelogenesis imperfecta hypomaturation type 2A2 ⚠
  • p.Pro290= Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Pro31Leu Single submitter amelogenesis imperfecta hypomaturation type 2A2 ⚠
  • p.Pro379Leu Single submitter amelogenesis imperfecta hypomaturation type 2A2
  • p.Thr130Ile Single submitter MMP20-related disorder

Benign 48

Benign/Likely benign 3

Likely benign 9

Uncertain significance 123