Sugi Variant

Sugi Variant/AMHR2

AMHR2 — 172 ClinVar variants

All ClinVar germline AMHR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

21 Pathogenic · 5 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 3 Conflicting · 17 Benign · 1 Benign/Likely benign · 32 Likely benign · 79 Uncertain significance

Full AMHR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 91

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 9

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

Predictors lean, ClinVar uncertain 43

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

Predictors split 39

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

All AMHR2 variants

Pathogenic 21

Pathogenic/Likely pathogenic 5

Likely pathogenic 14

  • c.1140+6T>C Single submitter
  • c.49+2dup Single submitter persistent Mullerian duct syndrome
  • c.622-1G>A Single submitter persistent Mullerian duct syndrome
  • p.Arg303Trp Single submitter ⚠
  • p.Arg406Gln Single submitter ⚠
  • p.Arg504His Single submitter ⚠
  • p.Arg54Cys Single submitter persistent Mullerian duct syndrome ⚠
  • p.Gln135fs Single submitter persistent Mullerian duct syndrome
  • p.Gln77Ter Single submitter persistent Mullerian duct syndrome
  • p.Leu392fs Single submitter persistent Mullerian duct syndrome
  • p.Val15fs Single submitter persistent Mullerian duct syndrome
  • p.Arg172Gln No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Asn119Asp No assertion criteria Genetic non-acquired premature ovarian failure ⚠
  • p.Pro19Ala No assertion criteria Genetic non-acquired premature ovarian failure ⚠

Conflicting classifications of pathogenicity 3

Benign 17

Benign/Likely benign 1

  • p.Leu542= Multiple submitters Inborn genetic diseases

Likely benign 32

Uncertain significance 79