Sugi Variant

Sugi Variant/ALKBH8

ALKBH8 — 196 ClinVar variants

All ClinVar germline ALKBH8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 4 Conflicting · 11 Benign · 2 Benign/Likely benign · 50 Likely benign · 119 Uncertain significance

Full ALKBH8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 108

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 76

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

Predictors split 29

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

All ALKBH8 variants

Pathogenic 2

  • p.Trp596fs Single submitter intellectual developmental disorder, autosomal recessive 71
  • p.Arg559fs No assertion criteria intellectual developmental disorder, autosomal recessive 71

Pathogenic/Likely pathogenic 1

  • p.Arg328Ter Multiple submitters intellectual developmental disorder, autosomal recessive 71

Likely pathogenic 7

Conflicting classifications of pathogenicity 4

Benign 11

  • c.1030+9A>G Multiple submitters intellectual developmental disorder, autosomal recessive 71
  • c.1288-3C>T Multiple submitters intellectual developmental disorder, autosomal recessive 71
  • c.878+31T>A Multiple submitters intellectual developmental disorder, autosomal recessive 71
  • p.Asp240= Multiple submitters intellectual developmental disorder, autosomal recessive 71
  • c.772-72_772-71del Single submitter intellectual developmental disorder, autosomal recessive 71
  • c.-6-12G>T Single submitter
  • c.368-5C>T No assertion criteria ALKBH8-related disorder
  • p.Arg571Lys No assertion criteria ALKBH8-related disorder
  • p.Asp653Tyr No assertion criteria ALKBH8-related disorder
  • p.Gly612Cys No assertion criteria ALKBH8-related disorder
  • p.Pro81= No assertion criteria ALKBH8-related disorder

Benign/Likely benign 2

  • p.Cys467Ser Multiple submitters
  • p.Pro607Arg Multiple submitters intellectual developmental disorder, autosomal recessive 71

Likely benign 50

Uncertain significance 119