NDUFC1 — 15 ClinVar variants
All ClinVar germline NDUFC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely benign · 14 Uncertain significance
Full NDUFC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFC1 p.Ala2Val Uncertain significance Single submitter
- NDUFC1 p.Ala5Gly Uncertain significance Single submitter
- NDUFC1 p.Arg8Leu Uncertain significance Single submitter
- NDUFC1 p.Ile56Asn Uncertain significance Single submitter
- NDUFC1 p.Ile56Met Uncertain significance Single submitter
- NDUFC1 p.Ile59Thr Uncertain significance Single submitter
- NDUFC1 p.Leu14Arg Uncertain significance Single submitter
- NDUFC1 p.Pro16Thr Uncertain significance Single submitter
- NDUFC1 p.Val44Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All NDUFC1 variants
Likely benign 1
- p.Lys60Arg Single submitter
Uncertain significance 14
- p.Ala2Val Single submitter ⚠
- p.Ala5Gly Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg8Leu Single submitter ⚠
- p.Asn73Ser Single submitter ⚠
- p.Asp65Gly Single submitter ⚠
- p.Ile56Asn Single submitter ⚠
- p.Ile56Met Single submitter ⚠
- p.Ile59Thr Single submitter ⚠
- p.Leu14Arg Single submitter ⚠
- p.Lys70Gln Single submitter ⚠
- p.Pro16Thr Single submitter ⚠
- p.Thr47Ile Single submitter ⚠
- p.Val44Ile Single submitter ⚠