Sugi Variant

Sugi Variant/FA2H

FA2H — 419 ClinVar variants

All ClinVar germline FA2H variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

27 Pathogenic · 15 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 39 Conflicting · 28 Benign · 11 Benign/Likely benign · 115 Likely benign · 161 Uncertain significance

Full FA2H gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 4

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

Predictors agree, ClinVar conflicts 22

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 28

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

All FA2H variants

Pathogenic 27

Pathogenic/Likely pathogenic 15

  • c.340_363+8del Multiple submitters hereditary spastic paraplegia 35
  • c.363+2T>C Multiple submitters hereditary spastic paraplegia 35
  • c.506+1G>C Multiple submitters Spastic paraplegia
  • c.786+1G>A Multiple submitters hereditary spastic paraplegia 35
  • p.Arg127Ter Multiple submitters hereditary spastic paraplegia 35
  • p.Arg197Ter Multiple submitters hereditary spastic paraplegia 35
  • p.Arg235His Multiple submitters hereditary spastic paraplegia 35
  • p.Arg269His Multiple submitters Spastic paraplegia
  • p.Asp35Tyr Multiple submitters hereditary spastic paraplegia 35
  • p.Pro148Leu Multiple submitters FA2H-related disorder
  • p.Pro44Gln Multiple submitters Spastic paraplegia
  • p.Pro44Ser Multiple submitters Spastic paraplegia
  • p.Thr207Met Multiple submitters FA2H-related disorder ⚠
  • p.Thr314fs Multiple submitters Spastic paraplegia
  • p.Val275fs Multiple submitters hereditary spastic paraplegia 35

Likely pathogenic 23

  • c.1039+2T>G Single submitter hereditary spastic paraplegia 35
  • c.364-1G>A Single submitter
  • p.Ala24fs Single submitter
  • p.Ala54fs Single submitter hereditary spastic paraplegia 35
  • p.Arg32fs Single submitter hereditary spastic paraplegia 35
  • p.Asp312Tyr Single submitter hereditary spastic paraplegia 35
  • p.Gly304Cys Single submitter hereditary spastic paraplegia 35 ⚠
  • p.Gly304Ser Single submitter hereditary spastic paraplegia 35 ⚠
  • p.His69Gln Single submitter hereditary spastic paraplegia 35
  • p.Leu179fs Single submitter hereditary spastic paraplegia 35
  • p.Lys121Arg Single submitter hereditary spastic paraplegia 35 ⚠
  • p.Lys262Thr Single submitter hereditary spastic paraplegia 35
  • p.Met220fs Single submitter FA2H-related disorder
  • p.Phe236fs Single submitter hereditary spastic paraplegia 35
  • p.Phe39fs Single submitter hereditary spastic paraplegia 35
  • p.Pro173Ser Single submitter hereditary spastic paraplegia 35
  • p.Ser165fs Single submitter hereditary spastic paraplegia 35
  • p.Ser244fs Single submitter FA2H-related disorder
  • p.Trp76Ter Single submitter hereditary spastic paraplegia
  • p.Val124Ala Single submitter FA2H-related disorder
  • p.Asp266Glu No assertion criteria hereditary spastic paraplegia 35
  • p.His261fs No assertion criteria hereditary spastic paraplegia 35
  • p.Tyr317Asp No assertion criteria Tip-toe gait

Conflicting classifications of pathogenicity 39

Benign 28

Benign/Likely benign 11

  • c.*34G>A Multiple submitters hereditary spastic paraplegia 35
  • p.Ala22= Multiple submitters Spastic paraplegia
  • p.Gly307= Multiple submitters Spastic paraplegia
  • p.His257= Multiple submitters hereditary spastic paraplegia 35
  • p.Leu179= Multiple submitters Spastic paraplegia
  • p.Pro293= Multiple submitters hereditary spastic paraplegia 35
  • p.Pro7= Multiple submitters Spastic paraplegia
  • p.Pro97Ala Multiple submitters Spastic paraplegia
  • p.Thr363Pro Multiple submitters Spastic paraplegia
  • p.Val283Ile Multiple submitters hereditary spastic paraplegia 35
  • p.Val296= Multiple submitters hereditary spastic paraplegia 35

Likely benign 115

Uncertain significance 161