Sugi Variant

Sugi Variant/ODC1

ODC1 — 118 ClinVar variants

All ClinVar germline ODC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

5 Pathogenic · 6 Likely pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 38 Likely benign · 65 Uncertain significance

Full ODC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 1

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

Predictors lean, ClinVar uncertain 43

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

Predictors split 11

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

All ODC1 variants

Pathogenic 5

  • c.1242-2A>G Multiple submitters neurodevelopmental disorder with alopecia and brain abnormalities
  • c.1241+1G>T No assertion criteria neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Gln419Ter No assertion criteria neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Lys448Ter No assertion criteria neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Trp414fs No assertion criteria neurodevelopmental disorder with alopecia and brain abnormalities

Likely pathogenic 6

  • c.914-1G>C Single submitter
  • p.Asp433fs Single submitter neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Gln418Ter Single submitter
  • p.Pro438fs Single submitter neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Trp356fs Single submitter neurodevelopmental disorder with alopecia and brain abnormalities
  • p.Trp443Ter Single submitter neurodevelopmental disorder with alopecia and brain abnormalities

Conflicting classifications of pathogenicity 1

  • p.Asp35Asn Single submitter neurodevelopmental disorder with alopecia and brain abnormalities ⚠

Benign 2

Benign/Likely benign 1

  • p.Gly253Arg Multiple submitters Inborn genetic diseases

Likely benign 38

Uncertain significance 65