Sugi Variant

Sugi Variant/PLVAP

PLVAP — 261 ClinVar variants

All ClinVar germline PLVAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

6 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 11 Benign · 3 Benign/Likely benign · 119 Likely benign · 116 Uncertain significance

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

⚑ Evidence disagreements 112

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 4

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 23

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

All PLVAP variants

Pathogenic 6

  • p.Arg358Ter Multiple submitters diarrhea 10, protein-losing enteropathy type
  • p.Cys119fs Single submitter
  • p.Gln212Ter Single submitter
  • p.Gln330Ter Single submitter diarrhea 10, protein-losing enteropathy type
  • p.Val283fs Single submitter
  • p.Leu34Pro No assertion criteria diarrhea 10, protein-losing enteropathy type

Likely pathogenic 2

  • p.Leu224fs Single submitter
  • p.Lys363fs Single submitter diarrhea 10, protein-losing enteropathy type

Conflicting classifications of pathogenicity 4

Benign 11

Benign/Likely benign 3

Likely benign 119

Uncertain significance 116