Sugi Variant

Sugi Variant/VPS41

VPS41 — 192 ClinVar variants

All ClinVar germline VPS41 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

4 Pathogenic · 7 Likely pathogenic · 44 Benign · 1 Benign/Likely benign · 14 Likely benign · 122 Uncertain significance

Full VPS41 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 lean, ClinVar uncertain 88

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

Predictors split 21

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

All VPS41 variants

Pathogenic 4

  • c.1423-2A>G No assertion criteria spinocerebellar ataxia, autosomal recessive 29
  • c.450+1G>T No assertion criteria spinocerebellar ataxia, autosomal recessive 29
  • p.Arg633Pro No assertion criteria spinocerebellar ataxia, autosomal recessive 29
  • p.Cys791Phe No assertion criteria spinocerebellar ataxia, autosomal recessive 29

Likely pathogenic 7

  • c.385-2A>G Single submitter spinocerebellar ataxia, autosomal recessive 29
  • p.Arg416His Single submitter spinocerebellar ataxia, autosomal recessive 29 ⚠
  • p.Arg662Ter Single submitter spinocerebellar ataxia, autosomal recessive 29
  • p.Arg667Ter Single submitter spinocerebellar ataxia, autosomal recessive 29
  • p.Met663fs Single submitter spinocerebellar ataxia, autosomal recessive 29
  • p.Ser285Pro Single submitter spinocerebellar ataxia, autosomal recessive 29 ⚠
  • p.Tyr612Ter Single submitter spinocerebellar ataxia, autosomal recessive 29

Benign 44

Benign/Likely benign 1

Likely benign 14

Uncertain significance 122