Sugi Variant

Sugi Variant/CHCHD10

CHCHD10 — 268 ClinVar variants

All ClinVar germline CHCHD10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 115 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Conflicting · 13 Benign · 8 Benign/Likely benign · 90 Likely benign · 141 Uncertain significance

Full CHCHD10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 115

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 4

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

Predictors lean, ClinVar uncertain 78

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

Predictors split 33

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

All CHCHD10 variants

Pathogenic 3

  • p.Arg15Leu Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly66Val Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly58Arg No assertion criteria autosomal dominant mitochondrial myopathy with exercise intolerance

Pathogenic/Likely pathogenic 1

  • p.Ser59Leu Multiple submitters CHCHD10-related disorder

Conflicting classifications of pathogenicity 12

  • c.261+10_261+11delinsAG Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-5C>G Single submitter CHCHD10-related disorder
  • c.42-5C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.*8G>A Single submitter
  • p.Ala72Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala72Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala92Thr Single submitter Inborn genetic diseases ⚠
  • p.Gly66Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Gly75Glu Single submitter Inborn genetic diseases ⚠
  • p.His136= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro80Leu Single submitter Inborn genetic diseases ⚠
  • p.Tyr104Ter Single submitter autosomal dominant mitochondrial myopathy with exercise intolerance

Benign 13

Benign/Likely benign 8

  • c.41+7G>A Multiple submitters CHCHD10-related disorder
  • p.Ala46Ser Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance
  • p.Ala92Pro Multiple submitters Inborn genetic diseases
  • p.Leu110= Multiple submitters Inborn genetic diseases
  • p.Pro34Ser Multiple submitters lower motor neuron syndrome with late-adult onset
  • p.Ser77Gly Multiple submitters lower motor neuron syndrome with late-adult onset
  • p.Thr90Pro Multiple submitters Inborn genetic diseases
  • p.Tyr135His Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance

Likely benign 90

  • c.261+9C>A Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance
  • c.262-157C>T Multiple submitters
  • c.262-270G>A Multiple submitters
  • c.262-4C>T Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.262-5C>T Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.262-7C>T Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.409+15C>G Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.409+18G>A Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.410-14C>T Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.42-9C>A Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.-3A>G Multiple submitters
  • c.*53C>T Multiple submitters
  • p.Ala21= Multiple submitters Inborn genetic diseases
  • p.Gln95Pro Multiple submitters
  • p.Gly43= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • p.His63= Multiple submitters lower motor neuron syndrome with late-adult onset
  • p.Leu138= Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance
  • p.Met45Lys Multiple submitters lower motor neuron syndrome with late-adult onset
  • p.Pro38Leu Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Ser126= Multiple submitters Inborn genetic diseases
  • p.Ser7= Multiple submitters Inborn genetic diseases
  • p.Val57= Multiple submitters Inborn genetic diseases
  • p.Val64= Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • c.261+10G>C Single submitter lower motor neuron syndrome with late-adult onset
  • c.261+17A>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.261+7A>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-13A>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-14C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-18C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-28C>T Single submitter
  • c.409+11G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.409+11G>C Single submitter lower motor neuron syndrome with late-adult onset
  • c.409+17C>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.409+17C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.409+7G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.41+17G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.41+8G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.41+9G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-10C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-12C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-13C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-15C>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-17T>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-19G>C Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-8del Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • c.42-10A>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-15C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-18T>C Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-4G>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-5del Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-6C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-8C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-9C>T Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala128= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala18= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala25= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala52= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala53= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala56= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala8= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Arg3= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Asp118= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Cys102= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly124= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly54= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly58= Single submitter
  • p.Gly75= Single submitter
  • p.Gly76= Single submitter lower motor neuron syndrome with late-adult onset
  • p.His136Tyr Single submitter Inborn genetic diseases
  • p.Leu119= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Leu121= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Leu141= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Leu44= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Leu69= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro16= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro19= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro23= Single submitter
  • p.Pro24= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro28= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro38= Single submitter
  • p.Pro89= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ser30= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ser77= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ser78= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Thr51= Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2
  • p.Val85= Single submitter lower motor neuron syndrome with late-adult onset
  • c.-6G>T No assertion criteria CHCHD10-related disorder
  • p.Ala9= No assertion criteria CHCHD10-related disorder
  • p.Ala92= No assertion criteria CHCHD10-related disorder
  • p.Thr90= No assertion criteria CHCHD10-related disorder

Uncertain significance 141

  • c.262-3C>G Multiple submitters lower motor neuron syndrome with late-adult onset
  • c.409+1G>A Multiple submitters lower motor neuron syndrome with late-adult onset
  • p.Ala31Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala35Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala49Val Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Arg11Gly Multiple submitters autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Arg11Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg6Gly Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Asp111Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gln108Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Gly4Arg Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly71Arg Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.His26Asn Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro16Ser Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro23Thr Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro24Ser Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro27Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro36Ser Multiple submitters CHCHD10-related disorder ⚠
  • p.Ser117Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Ser30Leu Multiple submitters lower motor neuron syndrome with late-adult onset ⚠
  • p.Thr51Ala Multiple submitters Inborn genetic diseases ⚠
  • c.261+11_261+12delinsGC Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-11T>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-3C>A Single submitter
  • c.262-4C>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.262-7C>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.41+3G>A Single submitter lower motor neuron syndrome with late-adult onset
  • c.41+8G>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-3C>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.410-3C>T Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-2A>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.42-6C>G Single submitter lower motor neuron syndrome with late-adult onset
  • c.-30_-19del Single submitter
  • c.-47_-23del Single submitter
  • p.Ala103Thr Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala103Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala128Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Ala13Thr Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala13Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala18Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala32Gly Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala33Pro Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala33Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala33Val Single submitter Inborn genetic diseases ⚠
  • p.Ala35Asp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala35Ser Single submitter ⚠
  • p.Ala35Val Single submitter ⚠
  • p.Ala37Thr Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala46Asp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala53Glu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala53Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala68Val Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala72Pro Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala84Pro Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala88Asp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala88Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ala88Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala92fs Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ala9Val Single submitter Inborn genetic diseases ⚠
  • p.Arg15Cys Single submitter lower motor neuron syndrome with late-adult onset
  • p.Arg15His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Arg3Gln Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Arg3Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Arg3Pro Single submitter lower motor neuron syndrome with late-adult onset
  • p.Arg6Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Asp111Asn Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Asp111His Single submitter ⚠
  • p.Asp118Glu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Cys102Trp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Cys112Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Cys112fs Single submitter
  • p.Cys122Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Cys122Phe Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Cys122Trp Single submitter ⚠
  • p.Cys132fs Single submitter lower motor neuron syndrome with late-adult onset
  • p.Cys132Tyr Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gln108Lys Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gln108Ter Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gln41Arg Single submitter ⚠
  • p.Gln41Ter Single submitter Inborn genetic diseases
  • p.Gln82Ter Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gln87Ter Single submitter
  • p.Gln95fs Single submitter
  • p.Gln95Ter Single submitter lower motor neuron syndrome with late-adult onset
  • p.Glu105Lys Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Glu127Lys Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Glu79Lys Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly124Ser Single submitter ⚠
  • p.Gly137Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly40Val Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly43Trp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly4fs Single submitter lower motor neuron syndrome with late-adult onset
  • p.Gly54Glu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Gly66Asp Single submitter autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Gly75Arg Single submitter Inborn genetic diseases ⚠
  • p.His136Arg Single submitter ⚠
  • p.His26Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.His63Gln Single submitter Inborn genetic diseases ⚠
  • p.Leu110Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu129Pro Single submitter autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Leu69Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Lys130Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Met1Arg Single submitter lower motor neuron syndrome with late-adult onset
  • p.Met48Leu Single submitter ⚠
  • p.Met65Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Phe109Leu Single submitter autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Pro101Leu Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro142Thr Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro19Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro28Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Pro29Leu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro34Leu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro38Ser Single submitter ⚠
  • p.Pro83Ser Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro91= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Pro91Thr Single submitter ⚠
  • p.Pro96Arg Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Pro96His Single submitter ⚠
  • p.Pro96Leu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser117Asn Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser120Phe Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser126Asn Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser14= Single submitter lower motor neuron syndrome with late-adult onset
  • p.Ser20Ala Single submitter Inborn genetic diseases ⚠
  • p.Ser20Phe Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser30Trp Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser39Leu Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser67Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ⚠
  • p.Ser74Asn Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Ser78Leu Single submitter ⚠
  • p.Ser78Trp Single submitter Inborn genetic diseases ⚠
  • p.Ser7Asn Single submitter ⚠
  • p.Ser81Pro Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Thr70Asn Single submitter ⚠
  • p.Thr90Ile Single submitter Inborn genetic diseases ⚠
  • p.Tyr134Ter Single submitter lower motor neuron syndrome with late-adult onset
  • p.Val55Leu Single submitter ⚠
  • p.Val61Met Single submitter lower motor neuron syndrome with late-adult onset ⚠
  • p.Val64Ile Single submitter autosomal dominant mitochondrial myopathy with exercise intolerance ⚠
  • p.Ser113Cys No assertion criteria CHCHD10-related disorder ⚠
  • p.Tyr134His No assertion criteria CHCHD10-related disorder ⚠