Sugi Variant

Sugi Variant/NDST1

NDST1 — 313 ClinVar variants

All ClinVar germline NDST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 7 Conflicting · 15 Benign · 13 Benign/Likely benign · 103 Likely benign · 170 Uncertain significance

Full NDST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 4

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

Predictors lean, ClinVar uncertain 123

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 NDST1 variants

Pathogenic 2

  • p.Arg709Gln No assertion criteria intellectual disability, autosomal recessive 46
  • p.Glu642Asp No assertion criteria intellectual disability, autosomal recessive 46

Pathogenic/Likely pathogenic 1

  • p.Gly611Ser Multiple submitters NDST1-related disorders

Likely pathogenic 2

  • p.Asp656Asn Single submitter NDST1-related disorders
  • p.Phe640Leu Single submitter intellectual disability, autosomal recessive 46

Conflicting classifications of pathogenicity 7

Benign 15

Benign/Likely benign 13

Likely benign 103

Uncertain significance 170