NDUFB7 — 27 ClinVar variants
All ClinVar germline NDUFB7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
1 Likely pathogenic · 5 Likely benign · 21 Uncertain significance
Full NDUFB7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 16
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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NDUFB7 p.Arg104Gln
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 39
- NDUFB7 p.Arg106Gln Uncertain significance Single submitter
- NDUFB7 p.Arg71His Uncertain significance Single submitter
- NDUFB7 p.Arg93Cys Uncertain significance Single submitter
- NDUFB7 p.Arg98Gly Uncertain significance Single submitter
- NDUFB7 p.Asp132Gly Uncertain significance Single submitter
- NDUFB7 p.Asp72Gly Uncertain significance Single submitter
- NDUFB7 p.Asp94Asn Uncertain significance Single submitter
- NDUFB7 p.Gly129Arg Uncertain significance Single submitter
- NDUFB7 p.Leu5Val Uncertain significance Single submitter
- NDUFB7 p.Leu78Val Uncertain significance Single submitter
- NDUFB7 p.Met47Thr Uncertain significance Single submitter
- NDUFB7 p.Met99Leu Uncertain significance Single submitter
- NDUFB7 p.Phe77Ile Uncertain significance Single submitter
- NDUFB7 p.Pro32Leu Uncertain significance Single submitter
- NDUFB7 p.Val40Ala Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All NDUFB7 variants
Likely pathogenic 1
- c.113-10C>G Single submitter Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
Likely benign 5
- p.Arg84Gln Single submitter
- p.Arg93His Single submitter
- p.Cys59= Single submitter
- p.His62Tyr Single submitter
- p.Thr42= Single submitter
Uncertain significance 21
- p.Arg104Gln Multiple submitters mitochondrial complex I deficiency, nuclear type 39 ⚠
- p.Ala60Thr Single submitter ⚠
- p.Ala60Val Single submitter ⚠
- p.Arg106Gln Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg71His Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Asp132Gly Single submitter ⚠
- p.Asp72Gly Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Glu91Lys Single submitter ⚠
- p.Gly129Arg Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Leu78Val Single submitter ⚠
- p.Met47Thr Single submitter ⚠
- p.Met99Leu Single submitter ⚠
- p.Phe77Ile Single submitter ⚠
- p.Pro19Ser Single submitter
- p.Pro32Leu Single submitter ⚠
- p.Val40Ala Single submitter ⚠