Sugi Variant

Sugi Variant/NDUFS2

NDUFS2 — 250 ClinVar variants

All ClinVar germline NDUFS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

6 Pathogenic · 5 Likely pathogenic · 28 Conflicting · 15 Benign · 6 Benign/Likely benign · 78 Likely benign · 112 Uncertain significance

Full NDUFS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 7

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 18

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

All NDUFS2 variants

Pathogenic 6

Likely pathogenic 5

Conflicting classifications of pathogenicity 28

  • c.1116+6C>G Single submitter
  • c.1212+7A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.1354+10C>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.1354+5G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.1355-4C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.514+11C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.515-3C>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.628-12C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.628-17del Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.866+8G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.-223C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*108A>T Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala426Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg228Gln Single submitter mitochondrial complex I deficiency, nuclear type 6 ⚠
  • p.Arg323Gln Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Arg333Gln Single submitter NDUFS2-related disorders ⚠
  • p.His380Asp Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.His442Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile113Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Leu180= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Met292Thr Single submitter mitochondrial complex I deficiency ⚠
  • p.Phe200= Single submitter
  • p.Pro39= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Pro71Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser413Pro Single submitter mitochondrial complex I deficiency, nuclear type 6 ⚠
  • p.Tyr53Cys Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Val320Ala Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Val457= Single submitter mitochondrial complex I deficiency, nuclear type 1

Benign 15

Benign/Likely benign 6

  • c.702+14_702+17dup Multiple submitters
  • c.95+9G>C Multiple submitters mitochondrial complex I deficiency, nuclear type 6
  • c.986+12A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.986+13T>A Multiple submitters
  • p.Ala59= Multiple submitters mitochondrial complex I deficiency, nuclear type 6
  • p.Pro352Ala Multiple submitters mitochondrial complex I deficiency, nuclear type 6 ⚠

Likely benign 78

Uncertain significance 112