Sugi Variant

Sugi Variant/PCLO

PCLO — 3256 ClinVar variants

All ClinVar germline PCLO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1421 flagged for review →

65 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 51 Conflicting · 70 Benign · 44 Benign/Likely benign · 1145 Likely benign · 1873 Uncertain significance

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

⚑ Evidence disagreements 1421

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 40

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 1286

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 1286

Predictors split 93

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

All PCLO variants

Pathogenic 65

Pathogenic/Likely pathogenic 1

Likely pathogenic 7

Conflicting classifications of pathogenicity 51

Benign 70

Benign/Likely benign 44

Likely benign 1145

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1873

Showing the top 300 by review status; the full set is in the sitemap.