Sugi Variant

Sugi Variant/UBAP1

UBAP1 — 124 ClinVar variants

All ClinVar germline UBAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →

13 Pathogenic · 9 Likely pathogenic · 6 Conflicting · 5 Benign · 2 Benign/Likely benign · 16 Likely benign · 73 Uncertain significance

Full UBAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 59

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 4

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

Predictors lean, ClinVar uncertain 48

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

Predictors split 6

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

All UBAP1 variants

Pathogenic 13

  • p.Lys143fs Multiple submitters spastic paraplegia 80, autosomal dominant
  • p.Asp158_Phe159insTer Single submitter spastic paraplegia 80, autosomal dominant
  • p.Glu179Ter Single submitter spastic paraplegia 80, autosomal dominant
  • p.Gly98fs Single submitter spastic paraplegia 80, autosomal dominant
  • p.His108fs Single submitter
  • p.Lys106Ter Single submitter spastic paraplegia 80, autosomal dominant
  • p.Asp99fs No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Gln125Ter No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Glu176Ter No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Glu97fs No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Ile83fs No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Leu121fs No assertion criteria spastic paraplegia 80, autosomal dominant
  • p.Ser146fs No assertion criteria spastic paraplegia 80, autosomal dominant

Likely pathogenic 9

  • c.-20C>T Single submitter spastic paraplegia 80, autosomal dominant
  • p.Ala111fs Single submitter UBAP1-related disorder
  • p.Gln422Arg Single submitter spastic paraplegia 80, autosomal dominant ⚠
  • p.Glu160Ter Single submitter spastic paraplegia 80, autosomal dominant
  • p.Glu163Ter Single submitter spastic paraplegia 80, autosomal dominant
  • p.Gly7Ter Single submitter spastic paraplegia 80, autosomal dominant
  • p.Ile257fs Single submitter spastic paraplegia 80, autosomal dominant
  • p.Val144fs Single submitter spastic paraplegia 80, autosomal dominant
  • p.Cys161fs No assertion criteria spastic paraplegia 80, autosomal dominant

Conflicting classifications of pathogenicity 6

Benign 5

Benign/Likely benign 2

Likely benign 16

Uncertain significance 73