Sugi Variant

Sugi Variant/VAMP1

VAMP1 — 136 ClinVar variants

All ClinVar germline VAMP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 31 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 6 Conflicting · 14 Benign · 2 Benign/Likely benign · 51 Likely benign · 50 Uncertain significance

Full VAMP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 31

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 lean, ClinVar uncertain 20

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

Predictors split 11

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

All VAMP1 variants

Pathogenic 7

  • c.340+2T>A Multiple submitters Spastic paraplegia
  • c.340+2T>G Multiple submitters spastic ataxia 1
  • p.Gly20fs Multiple submitters Spastic paraplegia
  • p.Arg68Ter Single submitter VAMP1-related disorder
  • p.Gln40Ter Single submitter Spastic paraplegia
  • p.Gly18fs Single submitter myasthenic syndrome, congenital, 25, presynaptic
  • p.Glu43fs No assertion criteria myasthenic syndrome, congenital, 25, presynaptic

Pathogenic/Likely pathogenic 2

  • c.129+2T>G Multiple submitters Spastic paraplegia
  • p.Arg33Ter Multiple submitters Spastic paraplegia

Likely pathogenic 4

  • c.129+1G>A Single submitter Houge-Janssens syndrome 2
  • p.Asn51fs Single submitter spastic ataxia 1
  • p.Ser77Ter Single submitter
  • c.341-24G>A No assertion criteria myasthenic syndrome, congenital, 25, presynaptic

Conflicting classifications of pathogenicity 6

  • c.129+9A>G Single submitter Spastic paraplegia
  • c.2+12C>T Single submitter Spastic paraplegia
  • c.3-6C>T Single submitter myasthenic syndrome, congenital, 25, presynaptic
  • p.Cys105Ter Single submitter Spastic paraplegia
  • p.Gly23fs Single submitter Spastic paraplegia
  • p.Pro22fs Single submitter Spastic paraplegia

Benign 14

Benign/Likely benign 2

Likely benign 51

Uncertain significance 50