NDUFA5 — 8 ClinVar variants
All ClinVar germline NDUFA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
8 Uncertain significance
Full NDUFA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFA5 p.Arg95Thr Uncertain significance Single submitter
- NDUFA5 p.Asn89Lys Uncertain significance Single submitter
- NDUFA5 p.Gln71Arg Uncertain significance Single submitter
- NDUFA5 p.Ile31Val Uncertain significance Single submitter
- NDUFA5 p.Leu56Pro Uncertain significance Single submitter
- NDUFA5 p.Val65Ile Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All NDUFA5 variants
Uncertain significance 8
- c.86-2A>G Single submitter
- p.Arg95Thr Single submitter ⚠
- p.Asn89Lys Single submitter ⚠
- p.Gln111His Single submitter ⚠
- p.Gln71Arg Single submitter ⚠
- p.Ile31Val Single submitter ⚠
- p.Leu56Pro Single submitter ⚠
- p.Val65Ile Single submitter ⚠