Sugi Variant

Sugi Variant/POC1B

POC1B — 406 ClinVar variants

All ClinVar germline POC1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

26 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 20 Conflicting · 11 Benign · 10 Benign/Likely benign · 128 Likely benign · 191 Uncertain significance

Full POC1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 123

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

Predictors split 40

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

All POC1B variants

Pathogenic 26

Pathogenic/Likely pathogenic 6

  • c.101-3T>G Multiple submitters POC1B-related disorder
  • c.676+1G>A Multiple submitters POC1B-related disorder
  • p.Arg80Ter Multiple submitters POC1B-related disorder
  • p.Pro360fs Multiple submitters POC1B-related disorder
  • p.Thr445fs Multiple submitters cone-rod dystrophy 20
  • p.Val192fs Multiple submitters POC1B-related disorder

Likely pathogenic 14

Conflicting classifications of pathogenicity 20

Benign 11

Benign/Likely benign 10

Likely benign 128

Uncertain significance 191