Sugi Variant

Sugi Variant/CYP7B1

CYP7B1 — 582 ClinVar variants

All ClinVar germline CYP7B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

51 Pathogenic · 17 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 45 Conflicting · 20 Benign · 5 Benign/Likely benign · 201 Likely benign · 229 Uncertain significance

Full CYP7B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 216

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 17

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

Predictors lean, ClinVar uncertain 167

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 167

Predictors split 30

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

All CYP7B1 variants

Pathogenic 51

Pathogenic/Likely pathogenic 17

  • c.1233+1G>A Multiple submitters Spastic paraplegia
  • c.259+2T>C Multiple submitters Spastic paraplegia
  • c.260-1G>A Multiple submitters Spastic paraplegia
  • p.Arg361Ter Multiple submitters CYP7B1-related disorder
  • p.Arg417Cys Multiple submitters Spastic paraplegia
  • p.Arg417His Multiple submitters CYP7B1-related disorder ⚠
  • p.Arg452Ter Multiple submitters Spastic paraplegia
  • p.Arg486Cys Multiple submitters CYP7B1-related disorder ⚠
  • p.Asn105fs Multiple submitters Spastic paraplegia
  • p.Asp384fs Multiple submitters Spastic paraplegia
  • p.Glu321Lys Multiple submitters hereditary spastic paraplegia
  • p.Leu217fs Multiple submitters Spastic paraplegia
  • p.Leu217Ter Multiple submitters hereditary spastic paraplegia 5A
  • p.Lys430fs Multiple submitters Spastic paraplegia
  • p.Phe418fs Multiple submitters CHD7-related CHARGE syndrome
  • p.Ser363Phe Multiple submitters hereditary spastic paraplegia
  • p.Val59fs Multiple submitters CYP7B1-related disorder

Likely pathogenic 14

  • p.Arg370Cys Multiple submitters congenital bile acid synthesis defect 3
  • c.1057+1G>A Single submitter Spastic paraplegia
  • c.122+1G>A Single submitter hereditary spastic paraplegia 5A
  • c.122+1G>C Single submitter Spastic paraplegia
  • c.122+1G>T Single submitter Spastic paraplegia
  • p.Arg388Gly Single submitter hereditary spastic paraplegia 5A
  • p.Arg417Gly Single submitter hereditary spastic paraplegia
  • p.Arg63fs Single submitter CHD7-related CHARGE syndrome
  • p.Gly443Ala Single submitter
  • p.Gly451Ser Single submitter hereditary spastic paraplegia 5A
  • p.Lys121fs Single submitter hereditary spastic paraplegia 5A
  • p.Tyr438Ter Single submitter hereditary spastic paraplegia 5A
  • p.Asn296Lys No assertion criteria congenital bile acid synthesis defect 3
  • p.Pro46Arg No assertion criteria congenital bile acid synthesis defect 3

Conflicting classifications of pathogenicity 45

Benign 20

Benign/Likely benign 5

  • c.122+19A>T Multiple submitters Spastic paraplegia
  • c.123-19dup Multiple submitters hereditary spastic paraplegia
  • c.123-9del Multiple submitters Spastic paraplegia
  • c.260-5del Multiple submitters Spastic paraplegia
  • c.*49C>T Multiple submitters hereditary spastic paraplegia 5A

Likely benign 201

Uncertain significance 229