Sugi Variant

Sugi Variant/PLCB4

PLCB4 — 375 ClinVar variants

All ClinVar germline PLCB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 10 Conflicting · 80 Benign · 19 Benign/Likely benign · 51 Likely benign · 190 Uncertain significance

Full PLCB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 10

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 35

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

All PLCB4 variants

Pathogenic 14

Pathogenic/Likely pathogenic 1

  • p.Asp642Asn Multiple submitters auriculocondylar syndrome 2

Likely pathogenic 10

Conflicting classifications of pathogenicity 10

Benign 80

Benign/Likely benign 19

  • c.1414+16A>T Multiple submitters
  • c.2052-7C>T Multiple submitters auriculocondylar syndrome 2
  • c.2154+8C>A Multiple submitters auriculocondylar syndrome 2
  • c.2154+9C>G Multiple submitters auriculocondylar syndrome 2
  • c.226-8C>T Multiple submitters auriculocondylar syndrome 2
  • c.2525-8T>C Multiple submitters auriculocondylar syndrome 2
  • c.504-6C>T Multiple submitters auriculocondylar syndrome 2
  • p.Ala203Thr Multiple submitters auriculocondylar syndrome 2
  • p.Ala476= Multiple submitters auriculocondylar syndrome 2
  • p.Asn1041Ser Multiple submitters auriculocondylar syndrome 2
  • p.Asn1068Ser Multiple submitters auriculocondylar syndrome 2
  • p.Asp495= Multiple submitters auriculocondylar syndrome 2
  • p.Asp876= Multiple submitters auriculocondylar syndrome 2
  • p.Gln979Arg Multiple submitters auriculocondylar syndrome 2
  • p.Leu154= Multiple submitters auriculocondylar syndrome 2
  • p.Lys455Arg Multiple submitters auriculocondylar syndrome 2
  • p.Pro777= Multiple submitters auriculocondylar syndrome 2
  • p.Ser953Tyr Multiple submitters auriculocondylar syndrome 2
  • p.Tyr583= Multiple submitters auriculocondylar syndrome 2

Likely benign 51

Uncertain significance 190