MDH1 — 46 ClinVar variants
All ClinVar germline MDH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Pathogenic · 12 Likely benign · 33 Uncertain significance
Full MDH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MDH1 p.Lys66Arg Uncertain significance Multiple submitters
- MDH1 p.Ala114Thr Uncertain significance Single submitter
- MDH1 p.Ala12Thr Uncertain significance Single submitter
- MDH1 p.Ala70Thr Uncertain significance Single submitter
- MDH1 p.Asn306Thr Uncertain significance Single submitter
- MDH1 p.Gly172Val Uncertain significance Single submitter
- MDH1 p.Ile272Thr Uncertain significance Single submitter
- MDH1 p.Ile36Val Uncertain significance Single submitter
- MDH1 p.Leu169Phe Uncertain significance Single submitter
- MDH1 p.Leu331Pro Uncertain significance Single submitter
- MDH1 p.Met96Thr Uncertain significance Single submitter
- MDH1 p.Phe259Ser Uncertain significance Single submitter
- MDH1 p.Ser23Gly Uncertain significance Single submitter
- MDH1 p.Ser242Asn Uncertain significance Single submitter
- MDH1 p.Ser273Ala Uncertain significance Single submitter
- MDH1 p.Ser326Asn Uncertain significance Single submitter
- MDH1 p.Thr225Ala Uncertain significance Single submitter
- MDH1 p.Thr321Ile Uncertain significance Single submitter
- MDH1 p.Val129Ala Uncertain significance Single submitter
- MDH1 p.Val200Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- MDH1 p.Ala233Thr Uncertain significance Single submitter
- MDH1 p.Asp256Asn Uncertain significance Single submitter
- MDH1 p.Glu263Gln Uncertain significance Single submitter
- MDH1 p.Glu311Lys Uncertain significance Single submitter
- MDH1 p.Glu74Asp Uncertain significance Single submitter
- MDH1 p.His160Tyr Uncertain significance Single submitter
- MDH1 p.Lys318Glu Uncertain significance Single submitter
- MDH1 p.Met269Val Uncertain significance Single submitter
- MDH1 p.Ser23Ile Uncertain significance Single submitter
- MDH1 p.Ser333Phe Uncertain significance Single submitter
All MDH1 variants
Pathogenic 1
- p.Ala120Val No assertion criteria developmental and epileptic encephalopathy, 88
Likely benign 12
- c.200-5C>A Single submitter
- c.3+298A>T Single submitter
- c.3+346A>G Single submitter
- c.-3A>G Single submitter
- p.Asp75= Single submitter
- p.Gly231= Single submitter
- p.Ile85Val Single submitter
- p.Leu116= Single submitter
- p.Leu38= Single submitter
- p.Tyr119= Single submitter
- p.Tyr286= Single submitter
- p.Val254Ile Single submitter
Uncertain significance 33
- p.Lys66Arg Multiple submitters ⚠
- c.3+295G>C Single submitter
- c.3+298A>G Single submitter
- p.Ala114Thr Single submitter ⚠
- p.Ala12Thr Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Asn306Thr Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp283His Single submitter
- p.Glu263Gln Single submitter ⚠
- p.Glu311Lys Single submitter ⚠
- p.Glu74Asp Single submitter ⚠
- p.Gly172Val Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.Ile272Thr Single submitter ⚠
- p.Ile36Val Single submitter ⚠
- p.Leu169Phe Single submitter ⚠
- p.Leu331Pro Single submitter ⚠
- p.Lys318Glu Single submitter ⚠
- p.Met269Val Single submitter ⚠
- p.Met96Thr Single submitter ⚠
- p.Phe259Ser Single submitter ⚠
- p.Ser23Gly Single submitter ⚠
- p.Ser23Ile Single submitter ⚠
- p.Ser242Asn Single submitter ⚠
- p.Ser273Ala Single submitter ⚠
- p.Ser326Asn Single submitter ⚠
- p.Ser333Phe Single submitter ⚠
- p.Thr225Ala Single submitter ⚠
- p.Thr321Ile Single submitter ⚠
- p.Val129Ala Single submitter ⚠
- p.Val200Leu Single submitter ⚠