Sugi Variant

Sugi Variant/POP1

POP1 — 499 ClinVar variants

All ClinVar germline POP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 14 Conflicting · 58 Benign · 7 Benign/Likely benign · 169 Likely benign · 222 Uncertain significance

Full POP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 216

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 8

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

Predictors lean, ClinVar uncertain 173

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 173

Predictors split 34

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

All POP1 variants

Pathogenic 21

Pathogenic/Likely pathogenic 1

  • p.Gln778Ter Multiple submitters POP1-related disorder

Likely pathogenic 7

Conflicting classifications of pathogenicity 14

Benign 58

Benign/Likely benign 7

Likely benign 169

Uncertain significance 222