Sugi Variant

Sugi Variant/ORC4

ORC4 — 230 ClinVar variants

All ClinVar germline ORC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

15 Pathogenic · 3 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 5 Conflicting · 14 Benign · 8 Benign/Likely benign · 72 Likely benign · 108 Uncertain significance

Full ORC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 68

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 ORC4 variants

Pathogenic 15

Pathogenic/Likely pathogenic 3

  • p.Ser208Ter Multiple submitters ORC4-related disorders
  • p.Ser306fs Multiple submitters ORC4-related disorders
  • p.Tyr174Cys Multiple submitters ORC4-related disorders

Likely pathogenic 5

Conflicting classifications of pathogenicity 5

Benign 14

Benign/Likely benign 8

Likely benign 72

Uncertain significance 108