Sugi Variant

Sugi Variant/GPC3

GPC3 — 983 ClinVar variants

All ClinVar germline GPC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 471 flagged for review →

43 Pathogenic · 3 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 47 Conflicting · 33 Benign · 40 Benign/Likely benign · 325 Likely benign · 469 Uncertain significance

Full GPC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 471

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 29

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

Predictors lean, ClinVar uncertain 334

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 334

Predictors split 106

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

All GPC3 variants

Pathogenic 43

Pathogenic/Likely pathogenic 3

  • p.Gln91fs Multiple submitters Wilms tumor 1
  • p.Gly556Arg Multiple submitters GPC3-related disorders ⚠
  • p.Met216fs Multiple submitters Simpson-Golabi-Behmel syndrome type 1

Likely pathogenic 23

  • c.337+2T>A Multiple submitters Wilms tumor 1
  • c.1166+1G>A Single submitter Inborn genetic diseases
  • c.1167-1G>A Single submitter Simpson-Golabi-Behmel syndrome type 1
  • c.1292+2T>A Single submitter Wilms tumor 1
  • c.1413+1G>C Single submitter Simpson-Golabi-Behmel syndrome type 1
  • c.1413+2T>A Single submitter Wilms tumor 1
  • c.1414-1G>C Single submitter Wilms tumor 1
  • p.Ala232Asp Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Asn443fs Single submitter
  • p.Cys252Ser Single submitter
  • p.Cys498Ter Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Gln393Ter Single submitter
  • p.Gln82fs Single submitter GPC3-related disorders
  • p.Glu169Ter Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Glu456fs Single submitter
  • p.Leu565fs Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Met270fs Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Trp260Ter Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Val219fs Single submitter GPC3-related disorders
  • p.Val516fs Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Val64fs Single submitter Simpson-Golabi-Behmel syndrome type 1
  • p.Leu223fs No assertion criteria GPC3-related disorder
  • p.Ser325Ter No assertion criteria Simpson-Golabi-Behmel syndrome type 1

Conflicting classifications of pathogenicity 47

Benign 33

Benign/Likely benign 40

Likely benign 325

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

Uncertain significance 469

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