Sugi Variant

Sugi Variant/MDH2

MDH2 — 692 ClinVar variants

All ClinVar germline MDH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 357 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 15 Conflicting · 18 Benign · 11 Benign/Likely benign · 241 Likely benign · 388 Uncertain significance

Full MDH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 357

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 11

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

Predictors lean, ClinVar uncertain 272

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 272

Predictors split 74

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

All MDH2 variants

Pathogenic 10

Pathogenic/Likely pathogenic 1

  • p.Pro133Leu Multiple submitters MDH2-related disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 15

Benign 18

Benign/Likely benign 11

  • c.555+8C>T Multiple submitters developmental and epileptic encephalopathy, 51
  • c.633+9A>C Multiple submitters
  • c.66+17G>A Multiple submitters
  • p.Ala100= Multiple submitters Inborn genetic diseases
  • p.Ala59= Multiple submitters Inborn genetic diseases
  • p.Arg15= Multiple submitters Inborn genetic diseases
  • p.Glu322= Multiple submitters Inborn genetic diseases
  • p.Lys328Gln Multiple submitters
  • p.Phe333= Multiple submitters Inborn genetic diseases
  • p.Pro143= Multiple submitters
  • p.Val181= Multiple submitters Inborn genetic diseases

Likely benign 241

Uncertain significance 388

Showing the top 300 by review status; the full set is in the sitemap.