Sugi Variant

Sugi Variant/SNAP29

SNAP29 — 346 ClinVar variants

All ClinVar germline SNAP29 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

11 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 9 Conflicting · 32 Benign · 9 Benign/Likely benign · 109 Likely benign · 164 Uncertain significance

Full SNAP29 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 1

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 17

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

All SNAP29 variants

Pathogenic 11

Pathogenic/Likely pathogenic 4

  • p.Arg85Ter Multiple submitters CEDNIK syndrome
  • p.Leu119fs Multiple submitters Inborn genetic diseases
  • p.Met1Thr Multiple submitters CEDNIK syndrome
  • p.Val75fs Multiple submitters CEDNIK syndrome

Likely pathogenic 8

Conflicting classifications of pathogenicity 9

Benign 32

Benign/Likely benign 9

Likely benign 109

Uncertain significance 164