Sugi Variant

Sugi Variant/NDUFS1

NDUFS1 — 506 ClinVar variants

All ClinVar germline NDUFS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

16 Pathogenic · 5 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 33 Conflicting · 61 Benign · 22 Benign/Likely benign · 127 Likely benign · 206 Uncertain significance

Full NDUFS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 133

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

Predictors split 42

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

All NDUFS1 variants

Pathogenic 16

Pathogenic/Likely pathogenic 5

  • c.1393-2A>C Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • p.Arg152Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • p.Gly433fs Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • p.Leu168fs Multiple submitters Inborn genetic diseases
  • p.Val228Ala Multiple submitters mitochondrial complex I deficiency, nuclear type 5

Likely pathogenic 36

Conflicting classifications of pathogenicity 33

  • c.2092+7A>C Single submitter
  • c.421-7A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.738-20A>G Single submitter
  • c.738-20A>T Single submitter
  • c.-76G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*341A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • c.*426T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala256= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala85Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg241Trp Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Arg408Cys Single submitter NDUFS1-related disorder ⚠
  • p.Arg417Gly Single submitter mitochondrial complex I deficiency ⚠
  • p.Arg419Gln Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Arg62Ter Single submitter mitochondrial complex I deficiency, nuclear type 5
  • p.Asn669Ser Single submitter Leigh syndrome ⚠
  • p.Asp657Asn Single submitter Leigh syndrome ⚠
  • p.Glu591Gly Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Ile177Val Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Ile567Val Single submitter ⚠
  • p.Leu168= Single submitter
  • p.Leu354= Single submitter Leigh syndrome
  • p.Leu357Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu431Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Lys450Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys712Arg Single submitter ⚠
  • p.Met204Thr Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ser457= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ser701Asn Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Thr303Ser Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Val21= Single submitter Leigh syndrome
  • p.Val429Met Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Val506Ile Single submitter mitochondrial complex I deficiency, nuclear type 5 ⚠
  • p.Val534Met Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠

Benign 61

Benign/Likely benign 22

  • c.1262+17A>G Multiple submitters
  • c.1393-7T>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.154-12_154-9del Multiple submitters
  • c.154-13_154-9del Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • c.154-14_154-9del Multiple submitters
  • c.154-15_154-9del Multiple submitters
  • c.154-17T>C Multiple submitters
  • c.154-33dup Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • c.154-9del Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • c.2019+18A>T Multiple submitters mitochondrial complex I deficiency, nuclear type 5
  • c.262-15dup Multiple submitters
  • c.339-20_339-19del Multiple submitters
  • c.551+14C>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*158T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • c.*256C>T Multiple submitters Leigh syndrome
  • c.*399G>A Multiple submitters Leigh syndrome
  • c.*53T>G Multiple submitters Leigh syndrome
  • c.*574T>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Arg325= Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Asp138= Multiple submitters mitochondrial complex I deficiency, nuclear type 1
  • p.Gly343= Multiple submitters
  • p.Val41= Multiple submitters Leigh syndrome

Likely benign 127

Uncertain significance 206