MICOS13 — 17 ClinVar variants
All ClinVar germline MICOS13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
2 Pathogenic · 2 Conflicting · 1 Benign · 9 Likely benign · 3 Uncertain significance
Full MICOS13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MICOS13 p.Arg103Gly
Uncertain significance
Single submitter
Inborn genetic diseases
All MICOS13 variants
Pathogenic 2
- c.260-2A>G Single submitter combined oxidative phosphorylation deficiency 37
- c.30-1G>A No assertion criteria combined oxidative phosphorylation deficiency 37
Conflicting classifications of pathogenicity 2
Benign 1
- c.208-7_208-6del Single submitter
Likely benign 9
- c.207+13G>A Single submitter
- c.207+19G>A Single submitter
- c.208-20T>G Single submitter
- c.259+7C>A Single submitter
- c.260-15G>A Single submitter
- p.Ile88Val Single submitter
- p.Ser96= Single submitter
- p.Val97= Single submitter
- c.30-327C>T No assertion criteria MICOS13-related disorder
Uncertain significance 3
- c.208-3C>A Single submitter
- p.Arg103Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr105Cys Single submitter Inborn genetic diseases