ClinVar Miner

Variants in gene POLG

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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
147 120 709 402 134 9 1214

Condition and significance breakdown #

Total conditions: 47
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive sclerosing poliodystrophy 110 60 433 259 64 0 844
not provided 54 56 339 100 31 0 527
not specified 3 2 38 159 80 0 248
POLG-Related Spectrum Disorders 7 4 86 9 4 0 109
Seizures 9 2 24 21 13 0 69
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 4 1 22 0 0 0 27
Mitochondrial diseases 9 0 0 0 8 0 17
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 10 2 3 0 0 0 15
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 1 1 11 0 0 2 15
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 9 4 2 0 0 0 14
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 7 2 4 0 0 0 13
Mitochondrial DNA depletion syndrome 4B, MNGIE type 8 0 2 1 0 0 11
none provided 0 1 0 1 8 0 10
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 6 4 0 0 0 0 9
POLG-related disorders 1 1 1 0 0 5 7
Intellectual disability 0 0 5 1 0 0 6
Inborn genetic diseases 1 2 2 0 0 0 5
Global developmental delay 2 0 1 0 0 0 3
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 2 1 1 0 0 0 3
Myoclonic epilepsy myopathy sensory ataxia 3 0 0 0 0 0 3
Toe walking 1 1 1 0 0 0 3
Childhood myocerebrohepatopathy spectrum 2 0 0 0 0 0 2
Mitochondrial DNA depletion syndrome; Primary progressive multiple sclerosis 0 0 2 0 0 0 2
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 0 2 0 0 0 2
Seizures; Intellectual disability 0 1 1 0 0 0 2
Abnormality of corpus callosum 0 1 0 0 0 0 1
Alpers-like hepatocerebral syndrome 0 1 0 0 0 0 1
Autistic disorder of childhood onset; Seizures 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease 0 0 1 0 0 0 1
EEG abnormality 0 0 1 0 0 0 1
Idiopathic camptocormia 1 0 0 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 0 1
Microcephaly 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 0 1 0 0 0 0 1
Mitochondrial neurogastrointestinal encephalomyopathy 0 1 0 0 0 0 1
Obesity; Global developmental delay; Generalized epilepsy 1 0 0 0 0 0 1
POLG- Related Disorder 0 0 0 0 0 1 1
POLG-related condition 1 0 0 0 0 0 1
Plagiocephaly; Global developmental delay; Visual impairment; Cortical visual impairment; Generalized hypotonia; Hypsarrhythmia; Postnatal microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly 0 0 1 0 0 0 1
Polyneuropathy 0 0 1 0 0 0 1
Premature ovarian failure 0 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 0 1 0 0 0 0 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic 1 0 0 0 0 0 1
Progressive sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Myoclonic epilepsy myopathy sensory ataxia; Mitochondrial DNA depletion syndrome 4B, MNGIE type; Progressive external ophthalmoplegia with mitochondrial DNA deletions 0 0 0 0 0 1 1
Spinocerebellar atrophy 1 0 0 0 0 0 1
mitochondrial hepatopathy 1 0 0 0 0 0 1
neonatal seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 69
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 45 12 392 175 33 0 657
GeneDx 41 41 143 143 95 0 463
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 73 39 81 149 46 0 388
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 15 3 167 19 13 0 217
Athena Diagnostics Inc 10 3 71 25 14 0 123
Illumina Clinical Services Laboratory,Illumina 7 2 86 9 3 0 107
Ambry Genetics 10 4 25 21 13 0 73
CeGaT Praxis fuer Humangenetik Tuebingen 10 7 31 16 0 0 64
Mayo Clinic Laboratories, Mayo Clinic 5 3 11 10 7 0 35
Baylor Genetics 12 3 14 0 0 0 29
Genetic Services Laboratory, University of Chicago 2 2 11 11 3 0 29
Fulgent Genetics,Fulgent Genetics 4 1 22 0 0 0 27
OMIM 21 0 1 0 0 0 22
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 5 1 5 7 1 0 19
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 5 3 1 8 0 18
PreventionGenetics, PreventionGenetics 0 0 0 10 8 0 18
GeneReviews 9 0 0 0 8 0 17
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 1 1 11 0 0 0 13
Mendelics 3 1 2 2 3 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 3 2 5 0 1 0 11
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 4 6 0 0 0 0 10
Institute of Human Genetics, Klinikum rechts der Isar 8 1 0 0 0 0 9
GenomeConnect, ClinGen 0 0 0 0 0 8 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 2 2 1 2 0 0 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 7 0 0 0 0 0 7
Wellcome Centre for Mitochondrial Research,Newcastle University 6 0 0 0 0 0 6
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 5 1 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 1 1 4 0 0 0 6
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 3 1 1 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 4 0 0 1 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 4 0 0 0 4
Undiagnosed Diseases Network,NIH 2 0 2 0 0 0 4
New York Genome Center 0 1 3 0 0 0 4
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 3 0 0 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 2 1 0 0 0 0 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 0 0 0 3
SIB Swiss Institute of Bioinformatics 1 0 1 0 1 0 3
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 1 1 1 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 2 0 0 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 1 1 0 0 0 0 2
Inherited Neuropathy Consortium 0 0 2 0 0 0 2
Genomics, and Precision Dentistry Research Unit, Faculty of Dentistry, Chulalongkorn University 2 0 0 0 0 0 2
Claritas Genomics 1 0 0 0 0 0 1
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 0 1 0 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 1 0 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 1 0 0 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 1 0 0 0 1
Columbia University Medical Center,Columbia University 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 0 0 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 1 0 0 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 1 0 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 1 0 0 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 0 1
Codex Genetics Limited 1 0 0 0 0 0 1
GenomeConnect - GM1 0 0 0 0 0 1 1
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder,Children's Hospital of Fudan University 0 1 0 0 0 0 1
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center 0 0 1 0 0 0 1
Cardiogenetic Research Center,Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences 0 0 1 0 0 0 1

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