Sugi Variant

Sugi Variant/GCNT2

GCNT2 — 191 ClinVar variants

All ClinVar germline GCNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 7 Conflicting · 39 Benign · 3 Benign/Likely benign · 32 Likely benign · 98 Uncertain significance

Full GCNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 21

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 3

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

Predictors lean, ClinVar uncertain 13

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

Predictors split 5

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

All GCNT2 variants

Pathogenic 8

  • p.Arg334Ter Single submitter cataract 13 with adult I phenotype
  • p.Gly350Glu Single submitter cataract 13 with adult I phenotype
  • p.His254fs Single submitter cataract 13 with adult I phenotype
  • p.Ile20fs Single submitter cataract 13 with adult I phenotype
  • c.-117_*41del No assertion criteria cataract 13 with adult I phenotype
  • p.Ala169Thr No assertion criteria ADULT i BLOOD GROUP PHENOTYPE
  • p.Arg228Gln No assertion criteria ADULT i BLOOD GROUP PHENOTYPE
  • p.Phe364Ser No assertion criteria Developmental cataract

Pathogenic/Likely pathogenic 1

  • p.Tyr349Cys Multiple submitters GCNT2-related disorders

Likely pathogenic 3

  • p.Gly218fs Single submitter cataract 13 with adult I phenotype
  • p.Lys237fs Single submitter cataract 13 with adult I phenotype
  • p.Asn390fs No assertion criteria Developmental cataract

Conflicting classifications of pathogenicity 7

  • c.1018+15C>G Single submitter Blood group, I system
  • p.Arg385His Single submitter cataract 13 with adult I phenotype ⚠
  • p.Gly340Ser Single submitter cataract 13 with adult I phenotype ⚠
  • p.Pro85Arg Single submitter cataract 13 with adult I phenotype
  • p.Trp5Ter Single submitter cataract 13 with adult I phenotype
  • p.Tyr186Ter Single submitter cataract 13 with adult I phenotype
  • p.Tyr342Cys Single submitter GCNT2-related disorders ⚠

Benign 39

Benign/Likely benign 3

  • c.926-34857G>A Multiple submitters cataract 13 with adult I phenotype
  • c.*81G>A Multiple submitters Blood group, I system
  • p.Gly210= Multiple submitters cataract 13 with adult I phenotype

Likely benign 32

Uncertain significance 98