Sugi Variant

Sugi Variant/AGO1

AGO1 — 194 ClinVar variants

All ClinVar germline AGO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 4 Conflicting · 6 Benign · 2 Benign/Likely benign · 33 Likely benign · 133 Uncertain significance

Full AGO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 111

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 3

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 30

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

All AGO1 variants

Pathogenic 2

  • c.650-2A>G Single submitter AGO1-associated disorder
  • p.Leu190Arg Single submitter AGO1-related disorder

Pathogenic/Likely pathogenic 2

  • p.Glu376del Multiple submitters AGO1-related disorder
  • p.Gly199Ser Multiple submitters neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures

Likely pathogenic 12

  • p.Asp356Asn Multiple submitters neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • p.Pro189Leu Multiple submitters neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • c.2466-1G>A Single submitter Inborn genetic diseases
  • p.Ala452Thr Single submitter Inborn genetic diseases
  • p.Arg532Cys Single submitter neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • p.Asp356Gly Single submitter neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • p.Gln417Lys Single submitter neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • p.Glu195Lys Single submitter intellectual disability
  • p.Gly199Cys Single submitter Inborn genetic diseases
  • p.Leu190Pro Single submitter neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures
  • p.His751Leu No assertion criteria intellectual disability
  • p.Ile797Phe No assertion criteria intellectual disability

Conflicting classifications of pathogenicity 4

  • p.Arg708Cys Single submitter Inborn genetic diseases ⚠
  • p.Gln358Arg Single submitter neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures ⚠
  • p.Phe180del Single submitter AGO1-related disorder
  • p.Thr781Met Single submitter AGO1-related Intellectual disability ⚠

Benign 6

Benign/Likely benign 2

Likely benign 33

Uncertain significance 133