Sugi Variant

Sugi Variant/OGDHL

OGDHL — 233 ClinVar variants

All ClinVar germline OGDHL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

2 Pathogenic · 7 Likely pathogenic · 3 Conflicting · 10 Benign · 4 Benign/Likely benign · 28 Likely benign · 179 Uncertain significance

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

⚑ Evidence disagreements 167

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 129

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

Predictors split 36

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

All OGDHL variants

Pathogenic 2

  • p.Arg673Gln No assertion criteria Yoon-Bellen neurodevelopmental syndrome
  • p.Val488= No assertion criteria Yoon-Bellen neurodevelopmental syndrome

Likely pathogenic 7

  • c.1862-2A>G Single submitter Yoon-Bellen neurodevelopmental syndrome
  • c.2140+1G>A Single submitter Yoon-Bellen neurodevelopmental syndrome
  • p.Arg299Gly Single submitter Yoon-Bellen neurodevelopmental syndrome
  • p.Asp562fs Single submitter Yoon-Bellen neurodevelopmental syndrome
  • p.Gln379Ter Single submitter Yoon-Bellen neurodevelopmental syndrome
  • p.Ser708Ter Single submitter Yoon-Bellen neurodevelopmental syndrome
  • p.Ser778Leu Single submitter Abnormal brain morphology

Conflicting classifications of pathogenicity 3

Benign 10

Benign/Likely benign 4

Likely benign 28

Uncertain significance 179