Sugi Variant

Sugi Variant/ENAM

ENAM — 302 ClinVar variants

All ClinVar germline ENAM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

8 Pathogenic · 4 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 8 Conflicting · 25 Benign · 2 Benign/Likely benign · 22 Likely benign · 230 Uncertain significance

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

⚑ Evidence disagreements 194

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 4

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 55

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

All ENAM variants

Pathogenic 8

  • c.588+1del Multiple submitters ENAM-related disorder
  • p.Gln222Ter Single submitter amelogenesis imperfecta type 1B
  • p.Trp361Ter Single submitter amelogenesis imperfecta type 1C
  • c.123+2T>G No assertion criteria amelogenesis imperfecta type 1B
  • c.534+1G>A No assertion criteria amelogenesis imperfecta type 1B
  • c.-61+1G>A No assertion criteria amelogenesis imperfecta
  • p.Lys53Ter No assertion criteria amelogenesis imperfecta type 1B
  • p.Tyr614Ter No assertion criteria amelogenesis imperfecta type 1C

Pathogenic/Likely pathogenic 4

  • c.588+1dup Multiple submitters amelogenesis imperfecta type 1B
  • p.Asp921fs Multiple submitters amelogenesis imperfecta type 1B
  • p.Pro422fs Multiple submitters Inborn genetic diseases
  • p.Leu31Arg No assertion criteria amelogenesis imperfecta type 1B

Likely pathogenic 3

Conflicting classifications of pathogenicity 8

Benign 25

Benign/Likely benign 2

  • p.Arg59= Multiple submitters amelogenesis imperfecta
  • p.Gly389Ser Multiple submitters amelogenesis imperfecta ⚠

Likely benign 22

Uncertain significance 230