Sugi Variant

Sugi Variant/NDUFS7

NDUFS7 — 354 ClinVar variants

All ClinVar germline NDUFS7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 18 Conflicting · 30 Benign · 8 Benign/Likely benign · 211 Likely benign · 69 Uncertain significance

Full NDUFS7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 51

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

Predictors split 5

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

All NDUFS7 variants

Pathogenic 4

Pathogenic/Likely pathogenic 1

  • p.Asp118fs Multiple submitters mitochondrial complex I deficiency, nuclear type 3

Likely pathogenic 13

  • c.123-1G>C Multiple submitters Leigh syndrome
  • c.455+2T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 3
  • c.16+1G>C Single submitter
  • c.17-1167C>G Single submitter Leigh syndrome
  • c.17-1G>T Single submitter
  • c.229-2A>C Single submitter
  • c.408+1G>C Single submitter mitochondrial complex I deficiency, nuclear type 3
  • c.54-1G>A Single submitter
  • p.Ala112Val Single submitter Leigh syndrome
  • p.Asp102Asn Single submitter mitochondrial complex I deficiency, nuclear type 3
  • p.Asp139Asn Single submitter mitochondrial complex I deficiency, nuclear type 3
  • p.Gln116fs Single submitter mitochondrial complex I deficiency, nuclear type 3
  • p.Tyr179Ter Single submitter mitochondrial complex I deficiency, nuclear type 3

Conflicting classifications of pathogenicity 18

  • c.16+6C>T Single submitter
  • c.455+13C>T Single submitter Leigh syndrome
  • c.456-16G>A Single submitter mitochondrial complex I deficiency, nuclear type 3
  • c.*16C>T Single submitter Leigh syndrome
  • p.Ala51= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Ala53Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
  • p.Ala65= Single submitter
  • p.Ala90= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Arg115Cys Single submitter ⚠
  • p.Arg115fs Single submitter mitochondrial complex I deficiency, nuclear type 3
  • p.Gly16Asp Single submitter ⚠
  • p.Gly60= Single submitter mitochondrial complex I deficiency, nuclear type 3
  • p.Leu46= Single submitter mitochondrial complex I deficiency, nuclear type 1
  • p.Leu86Val Single submitter mitochondrial complex I deficiency, nuclear type 3 ⚠
  • p.Pro7= Single submitter Leigh syndrome
  • p.Val122Met Single submitter Possible mitochondrial disorder - nuclear genes ⚠
  • p.Val147Met Single submitter mitochondrial complex I deficiency, nuclear type 3 ⚠
  • p.Val52Met Single submitter Inborn genetic diseases ⚠

Benign 30

Benign/Likely benign 8

Likely benign 211

Uncertain significance 69