Sugi Variant

Sugi Variant/ORC1

ORC1 — 421 ClinVar variants

All ClinVar germline ORC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 27 Conflicting · 22 Benign · 11 Benign/Likely benign · 136 Likely benign · 193 Uncertain significance

Full ORC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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 4

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

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 150

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

Predictors split 25

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

All ORC1 variants

Pathogenic 18

Pathogenic/Likely pathogenic 2

Likely pathogenic 12

Conflicting classifications of pathogenicity 27

Benign 22

Benign/Likely benign 11

  • c.1584-4C>G Multiple submitters Meier-Gorlin syndrome 1
  • c.402+12C>T Multiple submitters Meier-Gorlin syndrome 1
  • p.Ala413= Multiple submitters
  • p.Arg19Ser Multiple submitters Meier-Gorlin syndrome 1
  • p.Arg396Trp Multiple submitters Meier-Gorlin syndrome 1 ⚠
  • p.Gln582Arg Multiple submitters Meier-Gorlin syndrome 1
  • p.Met816Thr Multiple submitters Meier-Gorlin syndrome 1
  • p.Pro63= Multiple submitters Meier-Gorlin syndrome 1
  • p.Ser269Leu Multiple submitters Meier-Gorlin syndrome 1
  • p.Ser742= Multiple submitters Meier-Gorlin syndrome 1
  • p.Val772Ile Multiple submitters Meier-Gorlin syndrome 1

Likely benign 136

Uncertain significance 193