Sugi Variant

Sugi Variant/PDGFB

PDGFB — 210 ClinVar variants

All ClinVar germline PDGFB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

15 Pathogenic · 12 Likely pathogenic · 6 Conflicting · 26 Benign · 8 Benign/Likely benign · 56 Likely benign · 87 Uncertain significance

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

⚑ Evidence disagreements 80

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 5

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

Predicted LoF vs a conflicting call 1

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 63

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

Predictors split 10

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

All PDGFB variants

Pathogenic 15

Likely pathogenic 12

Conflicting classifications of pathogenicity 6

Benign 26

Benign/Likely benign 8

Likely benign 56

Uncertain significance 87