Sugi Variant

Sugi Variant/PLCE1

PLCE1 — 1005 ClinVar variants

All ClinVar germline PLCE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 509 flagged for review →

35 Pathogenic · 4 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 64 Conflicting · 70 Benign · 21 Benign/Likely benign · 210 Likely benign · 572 Uncertain significance

Full PLCE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 509

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 22

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

Predictors lean, ClinVar uncertain 402

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 402

Predictors split 85

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

All PLCE1 variants

Pathogenic 35

Pathogenic/Likely pathogenic 4

  • p.Arg1495Ter Multiple submitters nephrotic syndrome, type 3
  • p.Arg2150Ter Multiple submitters PLCE1-related disorder
  • p.Gln1660fs Multiple submitters nephrotic syndrome, type 3
  • p.Lys1113fs Multiple submitters nephrotic syndrome, type 3

Likely pathogenic 29

Conflicting classifications of pathogenicity 64

Benign 70

Benign/Likely benign 21

Likely benign 210

Uncertain significance 572

Showing the top 300 by review status; the full set is in the sitemap.