Sugi Variant

Sugi Variant/NFU1

NFU1 — 189 ClinVar variants

All ClinVar germline NFU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →

8 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 10 Conflicting · 30 Benign · 3 Benign/Likely benign · 62 Likely benign · 67 Uncertain significance

Full NFU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 51

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 43

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

Predictors split 6

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

All NFU1 variants

Pathogenic 8

  • c.545+5G>A Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • p.Arg182Trp Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • p.Gly208Cys Multiple submitters NFU1-related disorder
  • p.Val170fs Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Leu99Val No assertion criteria spastic paraplegia 93, autosomal recessive
  • p.Phe88Ser No assertion criteria spastic paraplegia 93, autosomal recessive
  • p.Val121Ala No assertion criteria spastic paraplegia 93, autosomal recessive ⚠
  • p.Val241Leu No assertion criteria spastic paraplegia 93, autosomal recessive

Pathogenic/Likely pathogenic 3

  • c.62+89G>A Multiple submitters spastic paraplegia 93, autosomal recessive
  • p.Arg182Gln Multiple submitters spastic paraplegia 93, autosomal recessive
  • p.Thr90fs Multiple submitters multiple mitochondrial dysfunctions syndrome 1

Likely pathogenic 6

  • c.303-2A>T Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.485-1G>C Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Arg182Leu Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Gln102Ter Single submitter NFU1-related disorder
  • p.Gly189Arg Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Val80fs Single submitter

Conflicting classifications of pathogenicity 10

  • c.166+8T>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.167-13T>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.302+3A>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.303-18T>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.545+4C>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-119G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Asp243Asn Single submitter spastic paraplegia 93, autosomal recessive ⚠
  • p.Cys210Phe Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Gln35Ter Single submitter
  • p.Glu234= Single submitter multiple mitochondrial dysfunctions syndrome 1

Benign 30

Benign/Likely benign 3

  • p.Ala51Ser Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • p.Pro233= Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • p.Thr140= Multiple submitters multiple mitochondrial dysfunctions syndrome 1

Likely benign 62

  • c.166+10C>T Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.303-19A>G Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.545+11C>T Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.545+9T>C Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.546-16T>C Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.62+14C>T Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.62+164G>A Multiple submitters
  • p.Ala100= Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • p.Leu176= Multiple submitters multiple mitochondrial dysfunctions syndrome 1
  • c.166+217del Single submitter
  • c.167-261C>G Single submitter
  • c.302+308C>T Single submitter
  • c.303-19A>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.303-277T>G Single submitter
  • c.303-4G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.303-4G>T Single submitter
  • c.369+7A>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.370-4A>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.370-4A>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.370-7T>C Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.370-8G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.370-94_370-93dup Single submitter
  • c.484+181C>A Single submitter
  • c.484+191C>T Single submitter
  • c.484+7T>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.485-12A>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.485-205G>C Single submitter
  • c.485-20T>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.485-274C>G Single submitter
  • c.485-296T>C Single submitter
  • c.485-8_485-5del Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.545+297del Single submitter
  • c.545+7G>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.546-15del Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.546-16T>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.546-226C>T Single submitter
  • c.546-230T>C Single submitter
  • c.546-52A>G Single submitter
  • c.546-7C>T Single submitter
  • c.63-124A>G Single submitter
  • c.63-4G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.720+11A>G Single submitter
  • c.721-8G>C Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.721-9dup Single submitter
  • c.-21C>T Single submitter
  • c.-27G>C Single submitter
  • p.Arg105= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Cys23= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Glu165= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Glu236= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Glu239= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Gly108= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Ile201= Single submitter
  • p.Leu133= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Phe52= Single submitter
  • p.Pro69= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Pro98= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Ser147= Single submitter
  • p.Thr63= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Val80= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.546-5C>T No assertion criteria NFU1-related disorder
  • p.Phe104= No assertion criteria NFU1-related disorder

Uncertain significance 67

  • p.Ala100Gly Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Arg96His Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Asn226Asp Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Asp166Gly Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Phe52Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe95Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro233Leu Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Pro233Thr Multiple submitters multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Pro49Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser111Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr184Ala Multiple submitters Inborn genetic diseases ⚠
  • c.166+3A>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.369+4A>C Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.720+4T>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.721-1G>A Single submitter
  • c.-134A>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-175G>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-179C>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-197T>G Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-200G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-41C>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-48G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.-66C>T Single submitter multiple mitochondrial dysfunctions syndrome 1
  • c.*103G>A Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Ala100Pro Single submitter spastic paraplegia 93, autosomal recessive ⚠
  • p.Arg101Gly Single submitter spastic paraplegia 93, autosomal recessive ⚠
  • p.Arg182= Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Asn125Asp Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Asn226= Single submitter
  • p.Asn28Lys Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Asn68Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn68His Single submitter Inborn genetic diseases ⚠
  • p.Asp166Val Single submitter Inborn genetic diseases ⚠
  • p.Asp167Asn Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Asp167del Single submitter multiple mitochondrial dysfunctions syndrome 1
  • p.Asp178Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp188Val Single submitter NFU1-related disorder ⚠
  • p.Cys23Tyr Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Gln203Arg Single submitter ⚠
  • p.Gln35His Single submitter Inborn genetic diseases ⚠
  • p.Glu124Gly Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Glu126Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu126Lys Single submitter ⚠
  • p.Glu165Asp Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Glu245Lys Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.His38Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile181Val Single submitter Inborn genetic diseases
  • p.Leu103Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu133Pro Single submitter spastic paraplegia 93, autosomal recessive ⚠
  • p.Leu151fs Single submitter
  • p.Leu45His Single submitter Inborn genetic diseases ⚠
  • p.Phe144Val Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Phe46Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro183Arg Single submitter spastic paraplegia 93, autosomal recessive ⚠
  • p.Pro29Leu Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Pro36Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro36Leu Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Pro67Ala Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Pro69Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser212Arg Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Ser97Cys Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Ser97Pro Single submitter ⚠
  • p.Thr120Asn Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Tyr194Cys Single submitter multiple mitochondrial dysfunctions syndrome 1 ⚠
  • p.Val112Ile Single submitter ⚠
  • p.Val241Ala Single submitter
  • p.Val80Phe Single submitter Inborn genetic diseases ⚠