Sugi Variant

Sugi Variant/PORCN

PORCN — 229 ClinVar variants

All ClinVar germline PORCN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

34 Pathogenic · 2 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 10 Conflicting · 16 Benign · 7 Benign/Likely benign · 45 Likely benign · 83 Uncertain significance

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

⚑ Evidence disagreements 84

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 7

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

Predictors lean, ClinVar uncertain 52

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 PORCN variants

Pathogenic 34

Pathogenic/Likely pathogenic 2

Likely pathogenic 32

Conflicting classifications of pathogenicity 10

Benign 16

Benign/Likely benign 7

Likely benign 45

Uncertain significance 83