Sugi Variant

Sugi Variant/CAPN1

CAPN1 — 359 ClinVar variants

All ClinVar germline CAPN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

33 Pathogenic · 7 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 31 Benign · 4 Benign/Likely benign · 109 Likely benign · 160 Uncertain significance

Full CAPN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 2

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

Predictors lean, ClinVar uncertain 90

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

Predictors split 65

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

All CAPN1 variants

Pathogenic 33

Pathogenic/Likely pathogenic 7

  • c.1605+5G>A Multiple submitters autosomal recessive spastic paraplegia type 76
  • c.267+2T>C Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Arg285Ter Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Arg377fs Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Arg385Ter Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Glu657Ter Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Trp335Ter Multiple submitters autosomal recessive spastic paraplegia type 76

Likely pathogenic 10

  • c.929+2T>A Multiple submitters autosomal recessive spastic paraplegia type 76
  • p.Arg512Cys Multiple submitters
  • c.1565+1G>A Single submitter CAPN1-related disorder
  • c.1943-1G>C Single submitter autosomal recessive spastic paraplegia type 76
  • c.457-2A>G Single submitter
  • p.Arg339Ter Single submitter autosomal recessive spastic paraplegia type 76
  • p.Glu223Ter Single submitter autosomal recessive spastic paraplegia type 76
  • p.Gly220fs Single submitter
  • p.Leu566Ter Single submitter autosomal recessive spastic paraplegia type 76
  • p.Ser337Ter Single submitter autosomal recessive spastic paraplegia type 76

Conflicting classifications of pathogenicity 5

Benign 31

Benign/Likely benign 4

Likely benign 109

Uncertain significance 160