Sugi Variant

Sugi Variant/NDUFA6

NDUFA6 — 75 ClinVar variants

All ClinVar germline NDUFA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 3 Benign · 3 Benign/Likely benign · 18 Likely benign · 40 Uncertain significance

Full NDUFA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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 22

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 8

The independent predictors disagree with each other — read with care.

All NDUFA6 variants

Pathogenic 4

  • p.Arg64Pro No assertion criteria mitochondrial complex I deficiency, nuclear type 33
  • p.Glu111fs No assertion criteria mitochondrial complex I deficiency, nuclear type 33
  • p.Glu89Ter No assertion criteria mitochondrial complex I deficiency, nuclear type 33
  • p.Leu119fs No assertion criteria mitochondrial disease

Likely pathogenic 3

  • p.Met104fs Multiple submitters Fetal anomalies with a likely genetic cause
  • p.Asp53fs Single submitter mitochondrial complex I deficiency, nuclear type 33
  • p.Val96fs Single submitter mitochondrial complex I deficiency, nuclear type 33

Conflicting classifications of pathogenicity 4

Benign 3

Benign/Likely benign 3

Likely benign 18

Uncertain significance 40