Sugi Variant

Sugi Variant/SNAPC4

SNAPC4 — 399 ClinVar variants

All ClinVar germline SNAPC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 321 flagged for review →

6 Pathogenic · 5 Likely pathogenic · 3 Conflicting · 2 Benign · 55 Likely benign · 328 Uncertain significance

Full SNAPC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 321

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 3

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

Predictors lean, ClinVar uncertain 281

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 281

Predictors split 36

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

All SNAPC4 variants

Pathogenic 6

  • c.472-2_472-1del No assertion criteria SNAPC4 related condition
  • c.737+5G>T No assertion criteria neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • p.Arg810Ter No assertion criteria neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • p.Asp441Asn No assertion criteria neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction ⚠
  • p.Gln386Arg No assertion criteria neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • p.Ile479Thr No assertion criteria SNAPC4 related condition

Likely pathogenic 5

  • c.1500+1G>A Single submitter neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • c.2499+1G>T Single submitter
  • c.2527+1G>A Single submitter neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • c.810+1G>A Single submitter neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
  • p.Gln833Ter Single submitter neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction

Conflicting classifications of pathogenicity 3

Benign 2

Likely benign 55

Uncertain significance 328

Showing the top 300 by review status; the full set is in the sitemap.