Sugi Variant

Sugi Variant/PNLIP

PNLIP — 272 ClinVar variants

All ClinVar germline PNLIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

14 Pathogenic · 4 Likely pathogenic · 2 Conflicting · 13 Benign · 2 Benign/Likely benign · 108 Likely benign · 129 Uncertain significance

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

⚑ Evidence disagreements 111

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 1

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 26

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

All PNLIP variants

Pathogenic 14

Likely pathogenic 4

Conflicting classifications of pathogenicity 2

Benign 13

Benign/Likely benign 2

  • p.Asn162= Multiple submitters pancreatic triacylglycerol lipase deficiency
  • p.Phe156= Multiple submitters

Likely benign 108

Uncertain significance 129