NDUFS5 — 16 ClinVar variants
All ClinVar germline NDUFS5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Benign · 2 Likely benign · 12 Uncertain significance
Full NDUFS5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFS5 p.Ala30Thr Uncertain significance Single submitter
- NDUFS5 p.Arg69Gln Uncertain significance Single submitter
- NDUFS5 p.Asn13Lys Uncertain significance Single submitter
- NDUFS5 p.Glu89Gly Uncertain significance Single submitter
- NDUFS5 p.Gly11Arg Uncertain significance Single submitter
- NDUFS5 p.Gly48Ser Uncertain significance Single submitter
- NDUFS5 p.Gly77Val Uncertain significance Single submitter
- NDUFS5 p.Ile79Val Uncertain significance Single submitter
- NDUFS5 p.Lys91Arg Uncertain significance Single submitter
- NDUFS5 p.Met73Leu Uncertain significance Single submitter
All NDUFS5 variants
Likely benign 2
- p.Arg74Lys Single submitter
- p.Val64Ile Single submitter
Uncertain significance 12
- p.Ala30Thr Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Asn13Lys Single submitter ⚠
- p.Glu89Gly Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly48Ser Single submitter ⚠
- p.Gly77Val Single submitter ⚠
- p.His98Pro Single submitter
- p.Ile79Val Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met73Leu Single submitter ⚠
- p.Phe63Leu Single submitter