Sugi Variant

Sugi Variant/NDUFA2

NDUFA2 — 87 ClinVar variants

All ClinVar germline NDUFA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

3 Pathogenic · 7 Conflicting · 7 Benign · 2 Benign/Likely benign · 28 Likely benign · 40 Uncertain significance

Full NDUFA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 18

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

Predictors split 9

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

All NDUFA2 variants

Pathogenic 3

  • p.Lys45Thr Single submitter Cystic Leukoencephalopathy
  • c.208+5G>A No assertion criteria mitochondrial complex I deficiency, nuclear type 13
  • p.Glu57Ala No assertion criteria mitochondrial complex I deficiency, nuclear type 13

Conflicting classifications of pathogenicity 7

  • c.102-11C>G Single submitter
  • c.-50G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Asn76fs Single submitter Cystic Leukoencephalopathy
  • p.Asp35Asn Single submitter Inborn genetic diseases ⚠
  • p.Gly11Arg Single submitter Inborn genetic diseases ⚠
  • p.Leu14Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Lys45= Single submitter mitochondrial complex I deficiency, nuclear type 1

Benign 7

Benign/Likely benign 2

Likely benign 28

Uncertain significance 40