MCEE — 126 ClinVar variants
All ClinVar germline MCEE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
5 Pathogenic · 4 Likely pathogenic · 5 Conflicting · 13 Benign · 2 Benign/Likely benign · 55 Likely benign · 42 Uncertain significance
Full MCEE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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MCEE p.Lys60Gln
Conflicting
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Val55Ala
Conflicting
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MCEE p.Ile159Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCEE p.Leu79Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCEE p.Val13Ala
Uncertain significance
Multiple submitters
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Ala10Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Ala63Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Ala76Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Arg104His
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Arg47Gln
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Asn90Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Cys166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Glu126Lys
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Gly118Arg
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.His121Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.His154Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.His50Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Ile123Asn
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Ile142Asn
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Leu5Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Leu91Met
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Pro56Ser
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Val127Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Val134Met
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Val4Leu
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Val87Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 8
The independent predictors disagree with each other — read with care.
-
MCEE p.Arg143His
Benign
Multiple submitters
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Arg47Leu
Uncertain significance
Multiple submitters
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Asn115Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MCEE p.Arg143Cys
Conflicting
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Glu147Gly
Uncertain significance
Single submitter
methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
-
MCEE p.Phe64Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Pro157Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MCEE p.Val86Ala
Uncertain significance
Single submitter
Inborn genetic diseases
All MCEE variants
Pathogenic 5
- p.Arg47Ter Multiple submitters MCEE-related disorders
- p.Ala7fs Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Asp36fs Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly70delinsAlaGlyArgGlyGlySerArgLeuTer Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ser17fs Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Likely pathogenic 4
- c.379-644A>G Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.375_378+4del Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.40+1G>A Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.40+1G>T Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Conflicting classifications of pathogenicity 5
- p.Arg104= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Arg143Cys Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Lys60Gln Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Pro34= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val55Ala Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
Benign 13
- c.379-575G>A Multiple submitters
- c.40+115G>T Multiple submitters
- c.41-106A>G Multiple submitters
- c.*262G>A Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala76Val Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Arg104Leu Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Arg143His Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- c.379-173C>T Single submitter
- c.379-281C>G Single submitter
- c.379-686C>T Single submitter
- c.379-832T>G Single submitter
- c.41-161dup Single submitter
- c.*120_*121del Single submitter
Benign/Likely benign 2
- c.41-13T>A Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly40= Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Likely benign 55
- p.Leu173= Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.378+11_378+19del Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.378+131C>T Single submitter
- c.378+15T>G Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.378+19T>C Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.378+20G>T Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.379-19T>C Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.379-5T>G Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.40+13C>A Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.40+17G>A Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.40+8C>G Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.41-20A>G Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.-15G>T Single submitter
- c.-16C>T Single submitter
- c.-51_-50delGCinsAA Single submitter
- c.*13del Single submitter
- p.Ala10= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala109= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala12= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala153= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala28= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala28Thr Single submitter Inborn genetic diseases
- p.Ala52= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala76= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala8= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala9= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Asn131= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gln20= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Glu97= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly110= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly118= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly167= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly70= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.His154= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ile123= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ile125= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ile53= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Leu102= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Leu161= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Leu45= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Leu69= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Leu98= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Lys6= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Lys60= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Pro101= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Pro107= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Pro22= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Thr31= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Thr39= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Thr94= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val127= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val158= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val169= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val26= Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val4= Single submitter
Uncertain significance 42
- p.Arg47Leu Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Asn115Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu174Gln Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ile159Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu79Val Multiple submitters Inborn genetic diseases ⚠
- p.Met1Ile Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Val13Ala Multiple submitters methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- c.41-9A>G Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- c.*64A>C Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala10Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Ala63Glu Single submitter Inborn genetic diseases ⚠
- p.Ala76Met Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Ala76Thr Single submitter Inborn genetic diseases ⚠
- p.Arg104His Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Arg47Gln Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Asn115Ser Single submitter Inborn genetic diseases
- p.Asn90Ser Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Cys166Ser Single submitter Inborn genetic diseases ⚠
- p.Glu126Lys Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Glu147Gly Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Gly118Arg Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Gly46Ser Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Gly92Glu Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.His121Arg Single submitter Inborn genetic diseases ⚠
- p.His154Arg Single submitter Inborn genetic diseases ⚠
- p.His50Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile123Asn Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Ile142Asn Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Leu5Val Single submitter Inborn genetic diseases ⚠
- p.Leu91Met Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Lys140fs Single submitter
- p.Lys141fs Single submitter
- p.Lys156Glu Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
- p.Phe64Leu Single submitter Inborn genetic diseases ⚠
- p.Pro157Ser Single submitter Inborn genetic diseases ⚠
- p.Pro56Ser Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Val127Met Single submitter Inborn genetic diseases ⚠
- p.Val134Met Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Val4Leu Single submitter methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ⚠
- p.Val86Ala Single submitter Inborn genetic diseases ⚠
- p.Val87Ala Single submitter Inborn genetic diseases ⚠