ClinVar Miner

Variants in gene POLG

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Gene type:
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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
132 110 566 367 133 8 1040

Condition and significance breakdown #

Total conditions: 39
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive sclerosing poliodystrophy 95 52 271 202 64 0 625
not provided 53 56 330 93 31 0 513
not specified 1 2 40 159 81 0 249
POLG-Related Spectrum Disorders 7 2 86 9 4 0 107
Seizures 9 2 24 20 13 0 68
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1 (MNGIE type); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; 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 sclerosing poliodystrophy; Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Mitochondrial DNA depletion syndrome 4B, MNGIE type 1 1 11 0 0 2 15
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 5 2 4 0 0 0 11
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 8 3 1 0 0 0 11
Cerebellar ataxia infantile with progressive external ophthalmoplegia 10 0 0 0 0 0 10
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 6 4 0 0 0 0 9
Mitochondrial DNA depletion syndrome 4B, MNGIE type 6 0 2 0 0 0 8
POLG-related disorders 1 1 1 0 0 4 7
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
Global developmental delay 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
Abnormality of corpus callosum 0 1 0 0 0 0 1
Alpers-like hepatocerebral syndrome 0 1 0 0 0 0 1
Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 0 1 0 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
Inborn genetic diseases 0 0 1 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 0 1
Mitochondrial DNA depletion syndrome 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 Disorders 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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic 1 0 0 0 0 0 1
Seizures; Autism 0 0 1 0 0 0 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: 49
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 41 41 143 143 95 0 463
Invitae 26 7 215 122 33 0 403
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
Illumina Clinical Services Laboratory,Illumina 7 1 86 9 3 0 106
Athena Diagnostics Inc 8 3 60 20 9 0 100
Ambry Genetics 9 2 25 20 13 0 69
CeGaT Praxis fuer Humangenetik Tuebingen 9 7 28 9 0 0 53
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 5 3 11 10 7 0 35
Genetic Services Laboratory, University of Chicago 0 2 14 10 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
PreventionGenetics,PreventionGenetics 0 0 0 10 8 0 18
GeneReviews 9 0 0 0 8 0 17
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 4 3 1 7 0 16
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
Baylor Genetics 6 3 0 0 0 0 9
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 0 2 0 0 6
Wellcome Centre for Mitochondrial Research,Newcastle University 6 0 0 0 0 0 6
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 3 1 1 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
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
SIB Swiss Institute of Bioinformatics 1 0 1 0 1 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 2 0 0 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
Claritas Genomics 1 0 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
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
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
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

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