Sugi Variant

Sugi Variant/GPC6

GPC6 — 354 ClinVar variants

All ClinVar germline GPC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Conflicting · 57 Benign · 4 Benign/Likely benign · 80 Likely benign · 198 Uncertain significance

Full GPC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 121

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 91

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

Predictors split 28

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

All GPC6 variants

Pathogenic 5

  • p.Glu145fs Single submitter
  • c.320_711del No assertion criteria autosomal recessive omodysplasia
  • c.712_877dup No assertion criteria autosomal recessive omodysplasia
  • p.Arg234Ter No assertion criteria autosomal recessive omodysplasia
  • p.Leu260fs No assertion criteria autosomal recessive omodysplasia

Pathogenic/Likely pathogenic 1

  • p.Arg171Trp Multiple submitters autosomal recessive omodysplasia

Conflicting classifications of pathogenicity 9

Benign 57

Benign/Likely benign 4

  • p.Glu63= Multiple submitters
  • p.Leu86Phe Multiple submitters autosomal recessive omodysplasia
  • p.Lys198= Multiple submitters
  • p.Pro447= Multiple submitters autosomal recessive omodysplasia

Likely benign 80

Uncertain significance 198