Sugi Variant

Sugi Variant/NEU1

NEU1 — 345 ClinVar variants

All ClinVar germline NEU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →

39 Pathogenic · 13 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 26 Conflicting · 4 Benign · 2 Benign/Likely benign · 148 Likely benign · 99 Uncertain significance

Full NEU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 107

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 8

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 58

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 NEU1 variants

Pathogenic 39

Pathogenic/Likely pathogenic 13

Likely pathogenic 14

Conflicting classifications of pathogenicity 26

Benign 4

  • c.*210T>A Multiple submitters sialidosis type 2
  • p.Gly88Ala Multiple submitters sialidosis type 2
  • c.-40T>G Single submitter sialidosis type 2
  • c.*581G>A Single submitter sialidosis type 2

Benign/Likely benign 2

Likely benign 148

Uncertain significance 99