NDUFC2 — 10 ClinVar variants
All ClinVar germline NDUFC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 5 Likely benign · 2 Uncertain significance
Full NDUFC2 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.
All NDUFC2 variants
Pathogenic 2
- p.His116fs Single submitter mitochondrial disease
- p.His58Leu Single submitter mitochondrial disease
Likely pathogenic 1
- p.Ala70fs Single submitter mitochondrial complex I deficiency, nuclear type 36
Likely benign 5
- c.310+10G>A Multiple submitters
- c.*111G>A Single submitter
- c.*87T>C Single submitter
- p.Arg119= Single submitter
- p.Leu31= Single submitter
Uncertain significance 2
- p.Arg87Cys Single submitter
- p.His116Arg Single submitter ⚠