Sugi Variant

Sugi Variant/AFG2B

AFG2B — 166 ClinVar variants

All ClinVar germline AFG2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

6 Pathogenic · 4 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 3 Conflicting · 8 Benign · 14 Likely benign · 120 Uncertain significance

Full AFG2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 131

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 2

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

Predictors lean, ClinVar uncertain 62

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 AFG2B variants

Pathogenic 6

  • c.1090-2A>G Single submitter SPATA5L1-associated disorder
  • p.Gln497fs Single submitter
  • p.Ile435fs Single submitter hearing loss, autosomal recessive 119
  • p.Ser609Ter Single submitter neurodevelopmental disorder with hearing loss and spasticity
  • p.Val726fs Single submitter SPATA5L1-associated disorder
  • p.Gln716fs No assertion criteria hearing loss, autosomal recessive 119

Pathogenic/Likely pathogenic 4

  • p.Glu207fs Multiple submitters hearing loss, autosomal recessive 119
  • p.Gly176Val Multiple submitters hearing loss, autosomal recessive 119 ⚠
  • p.Ile466Met Multiple submitters hearing loss, autosomal recessive 119 ⚠
  • p.Thr400Ile Multiple submitters AFG2B-related disorder

Likely pathogenic 11

  • p.Gly689Val Multiple submitters Inborn genetic diseases
  • p.Arg64Trp Single submitter neurodevelopmental disorder with hearing loss and spasticity
  • p.Arg658Lys Single submitter SPATA5L1-associated disorder ⚠
  • p.Gly642Ter Single submitter
  • p.Leu270Pro Single submitter neurodevelopmental disorder with hearing loss and spasticity
  • p.Leu438Pro Single submitter neurodevelopmental disorder with hearing loss and spasticity ⚠
  • p.Met669Arg Single submitter SPATA5L1-associated disorder ⚠
  • p.Val245Glu Single submitter neurodevelopmental disorder with hearing loss and spasticity
  • p.Ala559fs No assertion criteria
  • p.Cys29Gly No assertion criteria ⚠
  • p.Leu561Ser No assertion criteria

Conflicting classifications of pathogenicity 3

  • p.Ala519Asp Single submitter neurodevelopmental disorder with hearing loss and spasticity ⚠
  • p.Cys696Phe Single submitter Inborn genetic diseases ⚠
  • p.Pro9Leu Single submitter Inborn genetic diseases ⚠

Benign 8

Likely benign 14

Uncertain significance 120