Sugi Variant

Sugi Variant/AMELX

AMELX — 49 ClinVar variants

All ClinVar germline AMELX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 19 flagged for review →

13 Pathogenic · 6 Likely pathogenic · 9 Benign · 6 Likely benign · 15 Uncertain significance

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

⚑ Evidence disagreements 19

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 6

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 AMELX variants

Pathogenic 13

  • p.Pro56Leu Single submitter amelogenesis imperfecta type 1E ⚠
  • p.Pro56Thr Single submitter amelogenesis imperfecta type 1E ⚠
  • c.103-116T>C No assertion criteria amelogenesis imperfecta
  • p.Asn30His No assertion criteria amelogenesis imperfecta ⚠
  • p.Glu177Ter No assertion criteria amelogenesis imperfecta type 1E
  • p.Ile5_Ala8delinsThr No assertion criteria amelogenesis imperfecta type 1E
  • p.Leu167fs No assertion criteria amelogenesis imperfecta type 1E
  • p.Met1Thr No assertion criteria amelogenesis imperfecta type 1E
  • p.Pro38fs No assertion criteria amelogenesis imperfecta type 1E
  • p.Pro48fs No assertion criteria amelogenesis imperfecta
  • p.Thr37Ile No assertion criteria amelogenesis imperfecta type 1E ⚠
  • p.Trp4Ser No assertion criteria amelogenesis imperfecta type 1E ⚠
  • p.Tyr127fs No assertion criteria amelogenesis imperfecta type 1E

Likely pathogenic 6

  • c.144+1G>A Single submitter amelogenesis imperfecta type 1E
  • p.Ala16Asp Single submitter amelogenesis imperfecta type 1E
  • p.Gln97Ter Single submitter amelogenesis imperfecta type 1E
  • p.Met1Ile Single submitter amelogenesis imperfecta type 1E
  • p.Pro144fs Single submitter amelogenesis imperfecta type 1E
  • p.Trp4Ter Single submitter

Benign 9

Likely benign 6

Uncertain significance 15