MPC1 — 52 ClinVar variants
All ClinVar germline MPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
2 Pathogenic · 4 Likely pathogenic · 12 Benign · 1 Benign/Likely benign · 15 Likely benign · 18 Uncertain significance
Full MPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MPC1 p.Glu102Lys Uncertain significance Multiple submitters
- MPC1 p.Thr106Met Uncertain significance Multiple submitters
- MPC1 p.Ala107Val Uncertain significance Single submitter
- MPC1 p.Ala10Gly Uncertain significance Single submitter
- MPC1 p.Arg54Trp Uncertain significance Single submitter
- MPC1 p.Asp17Ala Uncertain significance Single submitter
-
MPC1 p.Gln74Lys
Uncertain significance
Single submitter
mitochondrial pyruvate carrier deficiency
-
MPC1 p.Leu92Val
Uncertain significance
Single submitter
mitochondrial pyruvate carrier deficiency
- MPC1 p.Lys16Arg Uncertain significance Single submitter
- MPC1 p.Met67Val Uncertain significance Single submitter
- MPC1 p.Thr25Met Uncertain significance Single submitter
- MPC1 p.Thr65Ile Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All MPC1 variants
Pathogenic 2
- p.Arg97Trp Single submitter mitochondrial pyruvate carrier deficiency
- p.Leu79His No assertion criteria mitochondrial pyruvate carrier deficiency
Likely pathogenic 4
- p.Ala70Thr Single submitter mitochondrial pyruvate carrier deficiency
- p.Arg97Gln Single submitter mitochondrial pyruvate carrier deficiency
- p.Lys72Glu Single submitter mitochondrial pyruvate carrier deficiency
- p.Pro37Ser Single submitter mitochondrial pyruvate carrier deficiency
Benign 12
- p.His101= Multiple submitters
- p.Leu36Ile Multiple submitters
- c.173-84A>G Single submitter
- c.306-93A>T Single submitter
- c.71+17G>A Single submitter
- c.71+68C>T Single submitter
- c.75+70G>T Single submitter
- c.76-102C>T Single submitter
- c.76-342G>A Single submitter
- c.-356A>G Single submitter
- c.-468G>C Single submitter
- c.*238A>C Single submitter
Benign/Likely benign 1
- p.Ala10= Multiple submitters
Likely benign 15
- c.72-8C>T Multiple submitters
- c.172+9G>T Single submitter
- c.173-14G>A Single submitter
- c.306-9dup Single submitter
- c.71+10G>A Single submitter
- c.71+282C>A Single submitter
- c.72-124G>C Single submitter
- p.Ala4= Single submitter
- p.Ala58= Single submitter
- p.Arg14= Single submitter
- p.Gln94= Single submitter
- p.His101Tyr Single submitter Fraser syndrome 3
- p.Thr104= Single submitter
- p.Thr106= Single submitter
- p.His84= No assertion criteria MPC1-related disorder
Uncertain significance 18
- p.Arg76Gln Multiple submitters ⚠
- p.Glu102Lys Multiple submitters ⚠
- p.Thr106Met Multiple submitters ⚠
- c.76-2A>G Single submitter
- p.Ala107Val Single submitter ⚠
- p.Ala10Gly Single submitter ⚠
- p.Ala90Thr Single submitter ⚠
- p.Arg54Trp Single submitter ⚠
- p.Asp17Ala Single submitter ⚠
- p.Gln74Lys Single submitter mitochondrial pyruvate carrier deficiency ⚠
- p.Leu92Val Single submitter mitochondrial pyruvate carrier deficiency ⚠
- p.Lys16Arg Single submitter ⚠
- p.Met67Val Single submitter ⚠
- p.Thr25= Single submitter
- p.Thr25Met Single submitter ⚠
- p.Thr65Ile Single submitter ⚠
- p.Tyr12Cys Single submitter
- p.Tyr21Ter Single submitter