Sugi Variant

Sugi Variant/MPV17

MPV17 — 343 ClinVar variants

All ClinVar germline MPV17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

25 Pathogenic · 27 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 22 Conflicting · 4 Benign · 1 Benign/Likely benign · 144 Likely benign · 90 Uncertain significance

Full MPV17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 1

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

Predictors agree, ClinVar conflicts 10

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

Predictors lean, ClinVar uncertain 44

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

Predictors split 15

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

All MPV17 variants

Pathogenic 25

  • c.279+1G>T Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.280-1dup Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.461+1G>C Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg50Gln Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Arg50Trp Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Pro98fs Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Val62fs Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.462-18_*60del Single submitter
  • c.71-2_79delins4 Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg125fs Single submitter
  • p.Gln159fs Single submitter
  • p.Gln19fs Single submitter
  • p.Gln93Ter Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Gly42fs Single submitter mitochondrial DNA depletion syndrome
  • p.His46fs Single submitter
  • p.Leu52fs Single submitter
  • p.Leu91fs Single submitter
  • p.Lys87Ter Single submitter
  • p.Pro139fs Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Trp16Ter Single submitter
  • p.Tyr136Ter Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Tyr70Ter Single submitter
  • p.Val38fs Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg41fs No assertion criteria mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Asn166Lys No assertion criteria mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Pathogenic/Likely pathogenic 27

  • c.186+2T>C Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.284delG Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.376-1G>A Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.376-2A>C Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.408+1G>A Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.409-1G>C Multiple submitters
  • c.461+2T>C Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.70+1G>A Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.70+5G>A Multiple submitters mitochondrial DNA depletion syndrome
  • p.Arg41Gln Multiple submitters MPV17-related disorder ⚠
  • p.Asn119fs Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Gln124Ter Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Gln35Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Gln47fs Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Gln93Pro Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Glu45fs Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Gly60fs Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Ile132fs Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Leu143Ter Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Lys88del Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Pro64Arg Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Pro98Leu Multiple submitters Mitochondrial DNA maintenance disorder
  • p.Ser170Phe Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Ser34Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Trp120Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Trp69Ter Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Tyr135Ter Multiple submitters mitochondrial DNA depletion syndrome, hepatocerebral form

Likely pathogenic 30

  • c.375+1G>A Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.375+1G>T Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.375+2T>C Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.462-2A>C Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.71-1G>T Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Arg125= Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg154Met Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Asp92Gly Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Cys99Ter Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Gly94Arg Multiple submitters MPV17-related disorder
  • p.Tyr153Ter Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.187-2A>T Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.278_279+24del Single submitter
  • c.279+1G>C Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.280-1G>T Single submitter
  • c.280-2A>G Single submitter
  • c.280-2del Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.461+1G>T Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.71-1G>A Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.71-2A>G Single submitter
  • p.Ala23Pro Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Cys99fs Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Gln44Ter Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Gly109_Ala110insTer Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Leu151fs Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Pro64Leu Single submitter
  • p.Pro98Gln Single submitter
  • p.Trp138Ter Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Val158fs Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Val20fs Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE

Conflicting classifications of pathogenicity 22

  • c.279+9_279+11del Single submitter
  • c.376-9T>G Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.70+8T>G Single submitter
  • c.*12T>G Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Ala130= Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Ala130Pro Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Arg125Trp Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE ⚠
  • p.Arg175Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg41Trp Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Asp92Ala Single submitter ⚠
  • p.Gln36Pro Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Gly79_Thr81del Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Leu11= Single submitter mitochondrial DNA depletion syndrome 15 (hepatocerebral type)
  • p.Leu21Val Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Leu91del Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Lys88_Met89delinsMetLeu Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Lys88Met Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Pro150= Single submitter
  • p.Pro64Ser Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE ⚠
  • p.Thr80Ile Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Tyr168Cys Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Val55Ala Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠

Benign 4

  • c.462-21T>C Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg9= Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Leu148= Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.375+48dup Single submitter

Benign/Likely benign 1

  • p.Gly60= Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE

Likely benign 144

Uncertain significance 90

  • c.375+6C>T Multiple submitters
  • c.408+4A>C Multiple submitters
  • c.70+4A>G Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • c.*347C>T Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*34G>A Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Ala12Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg125Gln Multiple submitters ⚠
  • p.Arg175Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly95Asp Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Gly95Ser Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE ⚠
  • p.Leu101Val Multiple submitters Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Leu151Phe Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Leu176Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Met54Val Multiple submitters mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Tyr136Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr7Cys Multiple submitters mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ⚠
  • p.Val157Ile Multiple submitters ⚠
  • p.Val65Ala Multiple submitters ⚠
  • c.409-7C>T Single submitter
  • c.462-21_462-20inv Single submitter
  • c.71-10C>T Single submitter
  • c.-11G>C Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.-20A>G Single submitter
  • c.-6+8G>A Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*130G>T Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*188A>G Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*194G>A Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*351C>T Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*360G>C Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*366C>T Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*367G>A Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*413A>C Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*54C>T Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*72A>C Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • c.*80C>T Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Ala121Val Single submitter Inborn genetic diseases ⚠
  • p.Ala13Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala13Pro Single submitter ⚠
  • p.Ala13Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala97= Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
  • p.Arg154Thr Single submitter ⚠
  • p.Arg175Pro Single submitter
  • p.Arg40Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg40Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg75Gln Single submitter ⚠
  • p.Arg75Gly Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Arg75Trp Single submitter ⚠
  • p.Asp118Gly Single submitter ⚠
  • p.Gln36Arg Single submitter ⚠
  • p.Gln36Glu Single submitter ⚠
  • p.Gln36Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln36Ter Single submitter Charcot-Marie-Tooth disease, axonal, type 2EE
  • p.Gln93Lys Single submitter ⚠
  • p.Glu45Val Single submitter ⚠
  • p.Gly109Glu Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Gly24Trp Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Gly79Arg Single submitter
  • p.Gly94Glu Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.His14Arg Single submitter ⚠
  • p.His14Tyr Single submitter mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.His152Tyr Single submitter ⚠
  • p.Leu21Arg Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Lys71Glu Single submitter ⚠
  • p.Lys88Asn Single submitter ⚠
  • p.Met89Leu Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Phe104Ile Single submitter ⚠
  • p.Pro128Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser56Tyr Single submitter
  • p.Thr22Arg Single submitter Inborn genetic diseases ⚠
  • p.Trp120Cys Single submitter Inborn genetic diseases
  • p.Tyr135Asn Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Tyr147Cys Single submitter Inborn genetic diseases ⚠
  • p.Val108Leu Single submitter ⚠
  • p.Val66Glu Single submitter mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ⚠
  • p.Val66Leu Single submitter mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ⚠
  • p.Val83Leu Single submitter ⚠
  • c.462-5C>T No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.-13G>C No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.-23G>T No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form
  • c.*3C>T No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form
  • p.Asp84Asn No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Gly102Cys No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Gly28Val No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2EE ⚠
  • p.Gly58Ser No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Ile132Thr No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Lys88Thr No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Ser25Tyr No assertion criteria mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ⚠
  • p.Trp69Ser No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Val66Ile No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠
  • p.Val72Ile No assertion criteria mitochondrial DNA depletion syndrome, hepatocerebral form ⚠