DMGDH — 178 ClinVar variants
All ClinVar germline DMGDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
2 Likely pathogenic · 3 Conflicting · 24 Benign · 4 Benign/Likely benign · 44 Likely benign · 101 Uncertain significance
Full DMGDH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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.
-
DMGDH p.Leu79Arg
Conflicting
Single submitter
dimethylglycine dehydrogenase deficiency
Predictors lean, ClinVar uncertain 65
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DMGDH p.Arg719Cys Uncertain significance Multiple submitters
- DMGDH p.Ala183Thr Uncertain significance Single submitter
- DMGDH p.Ala65Val Uncertain significance Single submitter
- DMGDH p.Arg143Ser Uncertain significance Single submitter
- DMGDH p.Arg286Gln Uncertain significance Single submitter
- DMGDH p.Arg301Gln Uncertain significance Single submitter
- DMGDH p.Arg344Gln Uncertain significance Single submitter
- DMGDH p.Arg431Cys Uncertain significance Single submitter
- DMGDH p.Arg431His Uncertain significance Single submitter
- DMGDH p.Arg49Lys Uncertain significance Single submitter
-
DMGDH p.Arg511Cys
Uncertain significance
Single submitter
dimethylglycine dehydrogenase deficiency
- DMGDH p.Arg576Gly Uncertain significance Single submitter
- DMGDH p.Arg719Ser Uncertain significance Single submitter
- DMGDH p.Arg856Trp Uncertain significance Single submitter
- DMGDH p.Asn179Ser Uncertain significance Single submitter
- DMGDH p.Asp145Glu Uncertain significance Single submitter
- DMGDH p.Asp305Glu Uncertain significance Single submitter
- DMGDH p.Asp428Tyr Uncertain significance Single submitter
- DMGDH p.Asp48Asn Uncertain significance Single submitter
- DMGDH p.Asp651Gly Uncertain significance Single submitter
-
DMGDH p.Asp708Asn
Uncertain significance
Single submitter
dimethylglycine dehydrogenase deficiency
- DMGDH p.Gln302His Uncertain significance Single submitter
- DMGDH p.Gln386Arg Uncertain significance Single submitter
- DMGDH p.Gln827Lys Uncertain significance Single submitter
- DMGDH p.Glu442Lys Uncertain significance Single submitter
- DMGDH p.Glu442Val Uncertain significance Single submitter
- DMGDH p.Glu610Ala Uncertain significance Single submitter
- DMGDH p.Gly383Glu Uncertain significance Single submitter
- DMGDH p.Gly405Val Uncertain significance Single submitter
- DMGDH p.Gly563Val Uncertain significance Single submitter
- DMGDH p.Gly634Trp Uncertain significance Single submitter
- DMGDH p.His270Arg Uncertain significance Single submitter
- DMGDH p.His417Arg Uncertain significance Single submitter
- DMGDH p.Ile278Val Uncertain significance Single submitter
- DMGDH p.Ile378Val Uncertain significance Single submitter
- DMGDH p.Ile425Val Uncertain significance Single submitter
- DMGDH p.Ile454Thr Uncertain significance Single submitter
- DMGDH p.Ile698Val Uncertain significance Single submitter
- DMGDH p.Ile809Val Uncertain significance Single submitter
- DMGDH p.Ile842Asn Uncertain significance Single submitter
- DMGDH p.Ile843Lys Uncertain significance Single submitter
- DMGDH p.Leu119Pro Uncertain significance Single submitter
- DMGDH p.Leu534Pro Uncertain significance Single submitter
- DMGDH p.Leu630Pro Uncertain significance Single submitter
- DMGDH p.Lys319Ile Uncertain significance Single submitter
- DMGDH p.Lys795Glu Uncertain significance Single submitter
- DMGDH p.Pro18Leu Uncertain significance Single submitter
- DMGDH p.Pro267Leu Uncertain significance Single submitter
- DMGDH p.Pro4Arg Uncertain significance Single submitter
- DMGDH p.Ser112Ile Uncertain significance Single submitter
- DMGDH p.Ser28Phe Uncertain significance Single submitter
- DMGDH p.Ser520Leu Uncertain significance Single submitter
- DMGDH p.Ser63Arg Uncertain significance Single submitter
- DMGDH p.Thr441Ala Uncertain significance Single submitter
- DMGDH p.Thr468Ala Uncertain significance Single submitter
- DMGDH p.Thr595Ser Uncertain significance Single submitter
- DMGDH p.Thr853Ser Uncertain significance Single submitter
- DMGDH p.Trp495Arg Uncertain significance Single submitter
- DMGDH p.Trp495Cys Uncertain significance Single submitter
- DMGDH p.Tyr312Cys Uncertain significance Single submitter
- DMGDH p.Tyr522Cys Uncertain significance Single submitter
- DMGDH p.Tyr817Phe Uncertain significance Single submitter
- DMGDH p.Val232Phe Uncertain significance Single submitter
- DMGDH p.Val29Leu Uncertain significance Single submitter
- DMGDH p.Val76Met Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
DMGDH p.His109Arg
Likely pathogenic
Multiple submitters
dimethylglycine dehydrogenase deficiency
- DMGDH p.Ala394Ser Uncertain significance Single submitter
- DMGDH p.Ala714Thr Uncertain significance Single submitter
- DMGDH p.Ala71Thr Uncertain significance Single submitter
- DMGDH p.Arg153Trp Uncertain significance Single submitter
- DMGDH p.Arg344Gly Uncertain significance Single submitter
- DMGDH p.Arg511His Uncertain significance Single submitter
- DMGDH p.Arg576Gln Uncertain significance Single submitter
- DMGDH p.Asn732Lys Uncertain significance Single submitter
- DMGDH p.Glu120Gly Uncertain significance Single submitter
- DMGDH p.Glu609Val Uncertain significance Single submitter
- DMGDH p.Glu785Asp Uncertain significance Single submitter
- DMGDH p.Gly237Ala Uncertain significance Single submitter
- DMGDH p.Gly450Glu Uncertain significance Single submitter
- DMGDH p.Gly538Cys Uncertain significance Single submitter
- DMGDH p.His403Tyr Uncertain significance Single submitter
- DMGDH p.Ile559Ser Uncertain significance Single submitter
- DMGDH p.Ile755Thr Uncertain significance Single submitter
- DMGDH p.Leu13Met Uncertain significance Single submitter
- DMGDH p.Leu738Trp Uncertain significance Single submitter
- DMGDH p.Lys643Glu Uncertain significance Single submitter
- DMGDH p.Met178Arg Uncertain significance Single submitter
- DMGDH p.Met200Ile Uncertain significance Single submitter
- DMGDH p.Met318Ile Uncertain significance Single submitter
- DMGDH p.Met570Val Uncertain significance Single submitter
- DMGDH p.Pro311Ser Uncertain significance Single submitter
- DMGDH p.Pro668Leu Uncertain significance Single submitter
- DMGDH p.Thr97Ile Uncertain significance Single submitter
- DMGDH p.Val290Leu Uncertain significance Single submitter
- DMGDH p.Val640Leu Uncertain significance Single submitter
-
DMGDH p.Tyr186Cys
Likely benign
No assertion criteria
DMGDH-related disorder
All DMGDH variants
Likely pathogenic 2
- p.His109Arg Multiple submitters dimethylglycine dehydrogenase deficiency ⚠
- p.Trp90Ter Single submitter dimethylglycine dehydrogenase deficiency
Conflicting classifications of pathogenicity 3
- c.101+2T>C Single submitter dimethylglycine dehydrogenase deficiency
- p.Leu79Arg Single submitter dimethylglycine dehydrogenase deficiency ⚠
- p.Trp324Ter Single submitter dimethylglycine dehydrogenase deficiency
Benign 24
- c.1815-9A>G Multiple submitters
- c.2250+9A>G Multiple submitters
- c.2251-133A>T Multiple submitters
- c.2251-24C>T Multiple submitters
- c.2251-96T>C Multiple submitters
- c.277-7T>G Multiple submitters
- c.375+121A>G Multiple submitters
- c.375+26C>G Multiple submitters
- c.746-36A>G Multiple submitters
- c.994+65A>G Multiple submitters
- p.Ala530Gly Multiple submitters
- p.Asn366Ser Multiple submitters
- p.Glu845= Multiple submitters
- p.Gly124= Multiple submitters
- p.Gly489= Multiple submitters
- p.Leu288= Multiple submitters
- p.Ser279Pro Multiple submitters
- p.Ser646Pro Multiple submitters
- c.1518-116_1518-102del Single submitter
- c.1518-16A>C Single submitter
- c.2385+46dup Single submitter
- c.375+50_375+51del Single submitter
- c.746-142T>A Single submitter
- p.Phe754Ser No assertion criteria DMGDH-related disorder
Benign/Likely benign 4
- c.1518-4T>A Multiple submitters
- c.1684-22A>G Multiple submitters
- c.-12C>G Multiple submitters
- p.Leu300Phe Multiple submitters
Likely benign 44
- c.101+143A>T Multiple submitters
- c.102-4C>T Multiple submitters
- c.2250+135T>C Multiple submitters
- c.277-89A>G Multiple submitters
- p.Arg770Gln Multiple submitters
- p.Asn732= Multiple submitters
- p.Leu822= Multiple submitters
- c.101+14C>T Single submitter
- c.1363+6G>A Single submitter
- c.1363+8A>G Single submitter
- c.1364-19A>G Single submitter
- c.1683+12T>C Single submitter
- c.1684-7T>C Single submitter
- c.1815-13G>T Single submitter
- c.1815-4G>A Single submitter
- c.1815-5C>T Single submitter
- c.2032+95TG[2] Single submitter
- c.2033-17C>T Single submitter
- c.2385+11A>C Single submitter
- c.2385+12G>C Single submitter
- c.276+16C>G Single submitter
- c.746-11T>C Single submitter
- c.-16C>G Single submitter
- p.Arg15= Single submitter
- p.Arg511= Single submitter
- p.Glu160= Single submitter
- p.Gly61= Single submitter
- p.Leu593= Single submitter
- p.Leu64= Single submitter
- p.Leu78= Single submitter
- p.Leu849= Single submitter
- p.Pro26= Single submitter
- p.Pro467= Single submitter
- p.Pro493= Single submitter
- p.Ser112= Single submitter
- p.Ser226= Single submitter
- p.Tyr298Ser Single submitter
- p.Val692Ala Single submitter
- c.101+10G>T No assertion criteria DMGDH-related disorder
- c.1814+10C>T No assertion criteria DMGDH-related disorder
- p.Arg477= No assertion criteria DMGDH-related disorder
- p.Leu105= No assertion criteria DMGDH-related disorder
- p.Pro23= No assertion criteria DMGDH-related disorder
- p.Tyr186Cys No assertion criteria DMGDH-related disorder ⚠
Uncertain significance 101
- p.Arg719Cys Multiple submitters ⚠
- p.Ala183Thr Single submitter ⚠
- p.Ala394Ser Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala714Thr Single submitter ⚠
- p.Ala71Thr Single submitter ⚠
- p.Arg143Ser Single submitter ⚠
- p.Arg153Trp Single submitter ⚠
- p.Arg286Gln Single submitter ⚠
- p.Arg286Ter Single submitter dimethylglycine dehydrogenase deficiency
- p.Arg301Gln Single submitter ⚠
- p.Arg344Gln Single submitter ⚠
- p.Arg344Gly Single submitter ⚠
- p.Arg431Cys Single submitter ⚠
- p.Arg431His Single submitter ⚠
- p.Arg462Trp Single submitter
- p.Arg49Lys Single submitter ⚠
- p.Arg511Cys Single submitter dimethylglycine dehydrogenase deficiency ⚠
- p.Arg511His Single submitter ⚠
- p.Arg576Gln Single submitter ⚠
- p.Arg576Gly Single submitter ⚠
- p.Arg719Ser Single submitter ⚠
- p.Arg856Trp Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn732Lys Single submitter ⚠
- p.Asp145Glu Single submitter ⚠
- p.Asp305Glu Single submitter ⚠
- p.Asp428Tyr Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Asp651Gly Single submitter ⚠
- p.Asp708Asn Single submitter dimethylglycine dehydrogenase deficiency ⚠
- p.Cys59Ser Single submitter
- p.Cys733Trp Single submitter
- p.Gln302His Single submitter ⚠
- p.Gln386Arg Single submitter ⚠
- p.Gln827Lys Single submitter ⚠
- p.Glu120Gly Single submitter ⚠
- p.Glu233fs Single submitter dimethylglycine dehydrogenase deficiency
- p.Glu442Lys Single submitter ⚠
- p.Glu442Val Single submitter ⚠
- p.Glu609Val Single submitter ⚠
- p.Glu610Ala Single submitter ⚠
- p.Glu785Asp Single submitter ⚠
- p.Gly237Ala Single submitter ⚠
- p.Gly383Glu Single submitter ⚠
- p.Gly405Val Single submitter ⚠
- p.Gly450Glu Single submitter ⚠
- p.Gly538Cys Single submitter ⚠
- p.Gly563Val Single submitter ⚠
- p.Gly634Trp Single submitter ⚠
- p.His270Arg Single submitter ⚠
- p.His403Tyr Single submitter ⚠
- p.His417Arg Single submitter ⚠
- p.Ile278Val Single submitter ⚠
- p.Ile378Val Single submitter ⚠
- p.Ile425Val Single submitter ⚠
- p.Ile454Thr Single submitter ⚠
- p.Ile559Ser Single submitter ⚠
- p.Ile698Val Single submitter ⚠
- p.Ile755Thr Single submitter ⚠
- p.Ile809Val Single submitter ⚠
- p.Ile842Asn Single submitter ⚠
- p.Ile843Lys Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Leu13Met Single submitter ⚠
- p.Leu534Pro Single submitter ⚠
- p.Leu630Pro Single submitter ⚠
- p.Leu738Trp Single submitter ⚠
- p.Lys319Ile Single submitter ⚠
- p.Lys643Glu Single submitter ⚠
- p.Lys795Glu Single submitter ⚠
- p.Met178Arg Single submitter ⚠
- p.Met200Ile Single submitter ⚠
- p.Met318Ile Single submitter ⚠
- p.Met570Val Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro311Ser Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro668Leu Single submitter ⚠
- p.Pro784Leu Single submitter
- p.Ser112Ile Single submitter ⚠
- p.Ser28Phe Single submitter ⚠
- p.Ser520Leu Single submitter ⚠
- p.Ser63Arg Single submitter ⚠
- p.Thr441Ala Single submitter ⚠
- p.Thr468Ala Single submitter ⚠
- p.Thr565Ile Single submitter
- p.Thr595Ser Single submitter ⚠
- p.Thr853Ser Single submitter ⚠
- p.Thr97Ile Single submitter ⚠
- p.Trp495Arg Single submitter ⚠
- p.Trp495Cys Single submitter ⚠
- p.Tyr312Cys Single submitter ⚠
- p.Tyr522Cys Single submitter ⚠
- p.Tyr817Phe Single submitter ⚠
- p.Val232Phe Single submitter ⚠
- p.Val290Leu Single submitter ⚠
- p.Val29Leu Single submitter ⚠
- p.Val640Leu Single submitter ⚠
- p.Val76Met Single submitter ⚠