Sugi Variant

Sugi Variant/ZP1

ZP1 — 153 ClinVar variants

All ClinVar germline ZP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Conflicting · 8 Benign · 12 Likely benign · 115 Uncertain significance

Full ZP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 116

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 92

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

Predictors split 20

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

All ZP1 variants

Pathogenic 10

  • p.Arg224Ter Single submitter female infertility due to zona pellucida defect
  • p.Cys534Ter Single submitter female infertility due to zona pellucida defect
  • p.Gln210Ter Single submitter
  • p.Gln257Ter Single submitter oocyte maturation defect 3
  • p.Gln292Ter Single submitter female infertility due to zona pellucida defect
  • p.Val377fs Single submitter female infertility due to zona pellucida defect
  • p.Val570Met Single submitter female infertility due to zona pellucida defect ⚠
  • c.1430+1G>T No assertion criteria female infertility due to zona pellucida defect
  • c.1775-8T>C No assertion criteria female infertility due to zona pellucida defect
  • p.Ile390fs No assertion criteria female infertility due to zona pellucida defect

Pathogenic/Likely pathogenic 1

  • c.1113-2A>G Multiple submitters female infertility due to zona pellucida defect

Likely pathogenic 5

  • p.Arg554Ter Single submitter female infertility due to zona pellucida defect
  • p.Asp73fs Single submitter female infertility due to zona pellucida defect
  • p.Tyr426Ter Single submitter
  • c.1015-1G>A No assertion criteria ZP1-related disorder
  • p.Arg109His No assertion criteria female infertility due to zona pellucida defect ⚠

Conflicting classifications of pathogenicity 2

Benign 8

Likely benign 12

Uncertain significance 115