NDUFA1 — 27 ClinVar variants
All ClinVar germline NDUFA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 11 Benign · 1 Benign/Likely benign · 6 Likely benign · 8 Uncertain significance
Full NDUFA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NDUFA1 p.Arg59His Uncertain significance Single submitter
-
NDUFA1 p.Gly65Val
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 12
- NDUFA1 p.Leu47Val Uncertain significance Single submitter
-
NDUFA1 p.Tyr43His
Uncertain significance
Single submitter
Inborn genetic diseases
- NDUFA1 p.Val57Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All NDUFA1 variants
Pathogenic 1
- p.Arg37Ser No assertion criteria mitochondrial complex I deficiency, nuclear type 12
Benign 11
- c.103-38T>G Multiple submitters
- c.193-50C>A Multiple submitters
- c.103-133del Single submitter
- c.103-224T>C Single submitter
- c.103-235dup Single submitter
- c.103-243A>T Single submitter
- c.103-244T>A Single submitter
- c.103-276A>G Single submitter
- c.103-7T>C Single submitter
- c.192+165del Single submitter
- c.193-294dup Single submitter
Benign/Likely benign 1
- p.Leu47= Multiple submitters Inborn genetic diseases
Likely benign 6
- c.103-19A>G Single submitter
- c.103-225del Single submitter
- c.103-235del Single submitter
- c.103-244dup Single submitter
- p.Ile54Thr Single submitter ⚠
- p.Tyr60= Single submitter
Uncertain significance 8
- p.Arg53His Multiple submitters Inborn genetic diseases ⚠
- p.Arg59His Single submitter ⚠
- p.Asp51fs Single submitter
- p.Asp51Glu Single submitter ⚠
- p.Gly65Val Single submitter mitochondrial complex I deficiency, nuclear type 12 ⚠
- p.Leu47Val Single submitter ⚠
- p.Tyr43His Single submitter Inborn genetic diseases ⚠
- p.Val57Ile Single submitter ⚠