Sugi Variant

Sugi Variant/PCCA

PCCA — 1486 ClinVar variants

All ClinVar germline PCCA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 424 flagged for review →

90 Pathogenic · 60 Pathogenic/Likely pathogenic · 141 Likely pathogenic · 48 Conflicting · 60 Benign · 12 Benign/Likely benign · 616 Likely benign · 459 Uncertain significance

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

⚑ Evidence disagreements 424

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 26

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

Predictors lean, ClinVar uncertain 307

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 307

Predictors split 90

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

All PCCA variants

Pathogenic 90

Pathogenic/Likely pathogenic 60

Likely pathogenic 141

Conflicting classifications of pathogenicity 48

Benign 60

Benign/Likely benign 12

Likely benign 616

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

Uncertain significance 459

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