Sugi Variant

Sugi Variant/GPT2

GPT2 — 139 ClinVar variants

All ClinVar germline GPT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 5 Conflicting · 8 Benign · 3 Benign/Likely benign · 27 Likely benign · 77 Uncertain significance

Full GPT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 4

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

Predictors lean, ClinVar uncertain 47

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

Predictors split 18

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

All GPT2 variants

Pathogenic 8

  • p.Arg404Ter Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Gln103fs Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Gln24Ter Single submitter Inborn genetic diseases
  • p.Glu61Ter Single submitter
  • p.Arg134Cys No assertion criteria glutamate pyruvate transaminase 2 deficiency
  • p.Asn271Thr No assertion criteria glutamate pyruvate transaminase 2 deficiency
  • p.Val478fs No assertion criteria glutamate pyruvate transaminase 2 deficiency
  • p.Val479Met No assertion criteria glutamate pyruvate transaminase 2 deficiency

Pathogenic/Likely pathogenic 2

  • p.Arg92Ter Multiple submitters glutamate pyruvate transaminase 2 deficiency
  • p.Val8fs Multiple submitters glutamate pyruvate transaminase 2 deficiency

Likely pathogenic 9

  • c.333+1G>A Single submitter GPT2-related disorders
  • c.333+2T>G Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Gln215Ter Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Pro309fs Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Ser153Arg Single submitter Inborn genetic diseases
  • p.Trp20fs Single submitter glutamate pyruvate transaminase 2 deficiency
  • p.Val379fs Single submitter
  • p.Val393fs No assertion criteria glutamate pyruvate transaminase 2 deficiency
  • p.Val90fs No assertion criteria Rare genetic intellectual disability

Conflicting classifications of pathogenicity 5

  • p.Gly475fs Single submitter Inborn genetic diseases
  • p.Gly481Ser Single submitter glutamate pyruvate transaminase 2 deficiency ⚠
  • p.Gly96Arg Single submitter intellectual disability ⚠
  • p.Pro392Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro391Leu No assertion criteria glutamate pyruvate transaminase 2 deficiency ⚠

Benign 8

Benign/Likely benign 3

Likely benign 27

Uncertain significance 77