Sugi Variant

Sugi Variant/SLC33A1

SLC33A1 — 285 ClinVar variants

All ClinVar germline SLC33A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

9 Pathogenic · 1 Likely pathogenic · 8 Conflicting · 16 Benign · 8 Benign/Likely benign · 80 Likely benign · 163 Uncertain significance

Full SLC33A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 111

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

Predictors split 24

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

All SLC33A1 variants

Pathogenic 9

  • p.Thr331fs Single submitter Spastic paraplegia
  • p.Tyr377Ter Single submitter Spastic paraplegia
  • c.1267-1G>A No assertion criteria Huppke-Brendel syndrome
  • c.1474_1482+9del No assertion criteria Huppke-Brendel syndrome
  • p.Ala110Pro No assertion criteria Huppke-Brendel syndrome
  • p.Leu205fs No assertion criteria Huppke-Brendel syndrome
  • p.Ser113Arg No assertion criteria hereditary spastic paraplegia 42
  • p.Tyr366Ter No assertion criteria Huppke-Brendel syndrome
  • p.Val181fs No assertion criteria Huppke-Brendel syndrome

Likely pathogenic 1

  • c.963+1G>A No assertion criteria Failure to thrive

Conflicting classifications of pathogenicity 8

Benign 16

Benign/Likely benign 8

  • c.1482+7A>G Multiple submitters Spastic paraplegia
  • p.Asn484Thr Multiple submitters Spastic paraplegia
  • p.Gln250= Multiple submitters Spastic paraplegia
  • p.Glu283Lys Multiple submitters Spastic paraplegia
  • p.Glu46Lys Multiple submitters Spastic paraplegia
  • p.Gly523= Multiple submitters Spastic paraplegia
  • p.Gly57Arg Multiple submitters Spastic paraplegia
  • p.Pro96= Multiple submitters Spastic paraplegia

Likely benign 80

Uncertain significance 163