Sugi Variant

Sugi Variant/NCDN

NCDN — 129 ClinVar variants

All ClinVar germline NCDN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 1 Benign · 23 Likely benign · 95 Uncertain significance

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

⚑ Evidence disagreements 92

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 3

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 18

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

All NCDN variants

Pathogenic 3

  • p.Arg478Gln Single submitter neurodevelopmental disorder with infantile epileptic spasms ⚠
  • p.Pro652Leu Single submitter neurodevelopmental disorder with infantile epileptic spasms
  • p.Trp498Arg Single submitter neurodevelopmental disorder with infantile epileptic spasms

Likely pathogenic 4

  • p.Glu331fs Single submitter neurodevelopmental disorder with infantile epileptic spasms
  • p.Glu433Gln Single submitter neurodevelopmental disorder with infantile epileptic spasms ⚠
  • p.Pro533Leu Single submitter neurodevelopmental disorder with infantile epileptic spasms
  • p.Arg73fs No assertion criteria neurodevelopmental disorder with infantile epileptic spasms

Conflicting classifications of pathogenicity 3

Benign 1

Likely benign 23

Uncertain significance 95