Sugi Variant

Sugi Variant/LIPE

LIPE — 290 ClinVar variants

All ClinVar germline LIPE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 35 Benign · 7 Benign/Likely benign · 52 Likely benign · 186 Uncertain significance

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

⚑ Evidence disagreements 177

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 2

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

Predictors lean, ClinVar uncertain 149

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 LIPE variants

Pathogenic 3

  • p.Arg374fs Single submitter Lipodystrophy - childhood onset
  • p.Gln79fs Single submitter Lipodystrophy - childhood onset
  • p.Ser508fs No assertion criteria LIPE-related familial partial lipodystrophy

Likely pathogenic 3

  • p.Ala738fs Single submitter LIPE-related disorder
  • p.Gln78Ter Single submitter LIPE-related familial partial lipodystrophy
  • p.Glu688Ter Single submitter LIPE-related disorder

Conflicting classifications of pathogenicity 4

Benign 35

Benign/Likely benign 7

Likely benign 52

Uncertain significance 186