Sugi Variant

Sugi Variant/AGTPBP1

AGTPBP1 — 171 ClinVar variants

All ClinVar germline AGTPBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

13 Pathogenic · 11 Likely pathogenic · 3 Conflicting · 7 Benign · 12 Likely benign · 125 Uncertain significance

Full AGTPBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 78

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

Predictors split 34

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

All AGTPBP1 variants

Pathogenic 13

  • c.2336-1G>T Single submitter AGTPBP1-related disorder
  • c.910-1G>A Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Arg330Ter Single submitter
  • p.Arg414Ter Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Arg948Ter Single submitter
  • p.Gln1117Ter Single submitter
  • p.Gln274fs Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Phe394fs Single submitter
  • p.Thr851Met Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Tyr964Terfs Single submitter AGTPBP1-related disorder
  • p.Gln856Ter No assertion criteria neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.His990Leu No assertion criteria neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Tyr694Asp No assertion criteria neurodegeneration, childhood-onset, with cerebellar atrophy

Likely pathogenic 11

  • c.2016-2A>G Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • c.2335+1G>A Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • c.3504-1G>T Single submitter
  • c.-34+1G>A Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Arg536Ter Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Arg799Leu Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Gln788Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln945Ter Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Tyr827Ter Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • c.2186+2T>G No assertion criteria Global developmental delay
  • p.Tyr732Cys No assertion criteria Global developmental delay

Conflicting classifications of pathogenicity 3

  • c.-66del Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy
  • p.Arg918Trp Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy ⚠
  • p.Tyr807Cys Single submitter neurodegeneration, childhood-onset, with cerebellar atrophy ⚠

Benign 7

Likely benign 12

Uncertain significance 125