Sugi Variant

Sugi Variant/AMH

AMH — 274 ClinVar variants

All ClinVar germline AMH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 7 Conflicting · 20 Benign · 5 Benign/Likely benign · 64 Likely benign · 148 Uncertain significance

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

⚑ Evidence disagreements 167

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 4

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 88

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

All AMH variants

Pathogenic 18

Pathogenic/Likely pathogenic 2

  • p.Arg40Ter Multiple submitters persistent Mullerian duct syndrome
  • p.Glu389Ter Multiple submitters persistent Mullerian duct syndrome

Likely pathogenic 10

  • p.Gly101Arg Multiple submitters persistent Mullerian duct syndrome
  • p.Leu339Pro Multiple submitters Cohen syndrome
  • p.Arg472Cys Single submitter
  • p.Leu339fs Single submitter persistent Mullerian duct syndrome
  • p.Pro550Leu Single submitter
  • p.Ter561Cys Single submitter persistent Mullerian duct syndrome
  • p.Thr353fs Single submitter persistent Mullerian duct syndrome
  • p.Val477Ala Single submitter persistent Mullerian duct syndrome
  • p.Arg465Cys No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Ser331Leu No assertion criteria persistent Mullerian duct syndrome ⚠

Conflicting classifications of pathogenicity 7

Benign 20

Benign/Likely benign 5

  • c.825-12T>G Multiple submitters
  • p.Ala86= Multiple submitters persistent Mullerian duct syndrome
  • p.Arg117Gln Multiple submitters Mobius syndrome ⚠
  • p.Gln325Arg Multiple submitters persistent Mullerian duct syndrome
  • p.Pro270Ser Multiple submitters persistent Mullerian duct syndrome

Likely benign 64

Uncertain significance 148