Sugi Variant

Sugi Variant/FUT8

FUT8 — 171 ClinVar variants

All ClinVar germline FUT8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

4 Pathogenic · 4 Likely pathogenic · 2 Conflicting · 28 Benign · 2 Benign/Likely benign · 50 Likely benign · 81 Uncertain significance

Full FUT8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 1

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

Predictors lean, ClinVar uncertain 57

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

Predictors split 22

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

All FUT8 variants

Pathogenic 4

  • p.Arg239Ter Multiple submitters Inborn genetic diseases
  • c.1259+5G>T No assertion criteria congenital disorder of glycosylation with defective fucosylation 1
  • p.Arg315Ter No assertion criteria congenital disorder of glycosylation with defective fucosylation 1
  • p.Arg337Gly No assertion criteria congenital disorder of glycosylation with defective fucosylation 1

Likely pathogenic 4

  • p.Arg318Ter Single submitter congenital disorder of glycosylation with defective fucosylation 1
  • p.Gly26fs Single submitter congenital disorder of glycosylation with defective fucosylation 1
  • p.Ser263fs Single submitter FUT8-related disorder
  • p.Trp4Ter No assertion criteria congenital disorder of glycosylation with defective fucosylation 1

Conflicting classifications of pathogenicity 2

  • p.Gly361= Single submitter Inborn genetic diseases
  • p.Thr550Met Single submitter congenital disorder of glycosylation with defective fucosylation 1 ⚠

Benign 28

Benign/Likely benign 2

Likely benign 50

Uncertain significance 81