Sugi Variant

Sugi Variant/DLAT

DLAT — 380 ClinVar variants

All ClinVar germline DLAT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 13 Conflicting · 45 Benign · 6 Benign/Likely benign · 133 Likely benign · 166 Uncertain significance

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

⚑ Evidence disagreements 166

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 9

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 66

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

All DLAT variants

Pathogenic 6

  • p.Arg435Ter Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Glu138Ter Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Gln190Ter Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Glu268fs Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Val242fs Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Glu121del No assertion criteria pyruvate dehydrogenase E2 deficiency

Pathogenic/Likely pathogenic 2

  • c.976-1G>A Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Asp283fs Multiple submitters pyruvate dehydrogenase E2 deficiency

Likely pathogenic 9

  • p.Val157Gly Multiple submitters Inborn genetic diseases
  • c.1129+2T>C Single submitter
  • c.1515-1G>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.381+1G>T Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Cys344fs Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Gly533Glu Single submitter
  • p.Ile159fs Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Pro325= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Tyr52Ter Single submitter pyruvate dehydrogenase E2 deficiency

Conflicting classifications of pathogenicity 13

Benign 45

Benign/Likely benign 6

  • c.1815-15T>C Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.381+21_381+22dup Multiple submitters
  • c.381+22delT Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Asp451Asn Multiple submitters pyruvate dehydrogenase E2 deficiency ⚠
  • p.Gln190= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Glu19Gln Multiple submitters pyruvate dehydrogenase E2 deficiency

Likely benign 133

  • c.1290+13C>T Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.1399-13C>T Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.1677+8A>G Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.279+13C>A Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.279+39T>C Multiple submitters
  • c.279+56G>A Multiple submitters
  • c.506+12G>A Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.660+83A>C Multiple submitters
  • c.976-15A>T Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.976-58C>T Multiple submitters
  • p.Ala210Thr Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Ala327= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Ala514= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Asp381Gly Multiple submitters pyruvate dehydrogenase E2 deficiency ⚠
  • p.Cys59= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Gly106= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.His218= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Leu252= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Leu276= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Leu290= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Leu458= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Pro323= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Pro345= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Ser202= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Ser80= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Thr229= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • p.Thr564= Multiple submitters pyruvate dehydrogenase E2 deficiency
  • c.1129+9G>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1130-20G>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1197+11T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1197+17T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1197+20T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1197+9T>C Single submitter
  • c.1198-16T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1198-20C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1198-4A>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1290+17C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1291-10T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1291-8G>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1398+164A>G Single submitter
  • c.1398+7G>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1399-20A>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1514+11C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1514+219T>G Single submitter
  • c.1515-7T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1515-93A>T Single submitter
  • c.1677+21_1677+24del Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1677+9T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1678-12T>C Single submitter
  • c.1678-7C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1815-17T>G Single submitter
  • c.279+18C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.279+49A>G Single submitter
  • c.280-15C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.381+12_381+13insG Single submitter pyruvate dehydrogenase E2 deficiency
  • c.381+21_381+22del Single submitter
  • c.381+7T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.381+8T>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.381+9T>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.382-16C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.382-19C>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.382-74_382-70del Single submitter
  • c.506+16_506+22del Single submitter pyruvate dehydrogenase E2 deficiency
  • c.506+9T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.507-12T>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.507-16T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.660+19G>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.660+7C>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.661-10G>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.661-6C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.787+259C>T Single submitter
  • c.788-195A>G Single submitter
  • c.788-20_788-18del Single submitter pyruvate dehydrogenase E2 deficiency
  • c.975+13C>T Single submitter pyruvate dehydrogenase E2 deficiency
  • c.975+15_975+16delinsGT Single submitter pyruvate dehydrogenase E2 deficiency
  • c.976-115G>A Single submitter
  • c.976-13T>A Single submitter pyruvate dehydrogenase E2 deficiency
  • c.976-13T>G Single submitter pyruvate dehydrogenase E2 deficiency
  • c.976-268_976-265del Single submitter
  • c.976-323A>G Single submitter
  • c.976-7T>C Single submitter pyruvate dehydrogenase E2 deficiency
  • c.-15G>A Single submitter
  • p.Ala225= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ala253= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ala514= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ala57= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg3= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg307= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg429= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg44= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg636= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Arg84= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Asn120Ser Single submitter
  • p.Asn581= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Asp299= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Asp451= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Cys164= Single submitter
  • p.Gln26= Single submitter
  • p.Glu297= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Glu456= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Gly270= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Gly30= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Gly382= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ile159= Single submitter
  • p.Ile162Met Single submitter pyruvate dehydrogenase E2 deficiency ⚠
  • p.Ile163= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ile163Val Single submitter ⚠
  • p.Ile450= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ile467Met Single submitter Inborn genetic diseases
  • p.Ile565= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Leu124= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Leu18= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Leu74= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Leu77= Single submitter
  • p.Lys114= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Lys245= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Pro170= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Pro319= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Pro492= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Pro89= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ser139= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ser227= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Ser617= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Thr102= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Thr134= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Thr196= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Thr288= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Thr309= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Val357= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Val404Ala Single submitter Inborn genetic diseases
  • p.Val48= Single submitter pyruvate dehydrogenase E2 deficiency
  • p.Val534= Single submitter pyruvate dehydrogenase E2 deficiency
  • c.1677+9T>G No assertion criteria DLAT-related disorder

Uncertain significance 166