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
119 90 473 310 109 7 877

Condition and significance breakdown #

Total conditions: 37
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Progressive sclerosing poliodystrophy 84 43 196 181 60 0 520
not provided 50 50 302 26 10 0 403
not specified 1 1 43 158 79 0 248
Seizures 9 2 24 20 13 0 68
POLG-Related Spectrum Disorders 7 1 34 3 1 0 46
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, and ophthalmoparesis; 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, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 1 10 0 0 2 13
Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 6 1 3 0 0 0 10
Cerebellar ataxia infantile with progressive external ophthalmoplegia 10 0 0 0 0 0 10
Mitochondrial DNA depletion syndrome 4B, MNGIE type 8 0 2 0 0 0 10
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 5 1 1 0 0 0 6
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
POLG-Related disorder 0 0 0 0 0 2 2
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; 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
Camptocormia 1 0 0 0 0 0 1
Cerebellar ataxia infantile with progressive external ophthalmoplegia; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 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
Inborn genetic diseases 0 0 1 0 0 0 1
Lennox-Gastaut syndrome 0 0 1 0 0 0 1
Maternally-inherited progressive external ophthalmoplegia 0 1 0 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 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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic 1 0 0 0 0 0 1
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 4B, MNGIE type 0 1 0 0 0 0 1
Seizures; Autism 0 0 1 0 0 0 1
neonatal seizures 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 39
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
GeneDx 40 40 143 130 77 0 430
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 73 39 81 149 46 0 388
Invitae 12 2 132 48 29 0 223
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 15 3 167 19 13 0 217
Ambry Genetics 9 2 25 20 13 0 69
Athena Diagnostics Inc 5 1 42 13 7 0 68
Illumina Clinical Services Laboratory,Illumina 7 1 34 3 0 0 45
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 4 3 12 10 7 0 35
Genetic Services Laboratory, University of Chicago 0 2 14 10 3 0 29
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 0 0 0 10 8 0 18
GeneReviews 9 0 0 0 8 0 17
CeGaT Praxis fuer Humangenetik Tuebingen 0 3 10 2 0 0 15
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 10 0 0 0 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 1 3 3 1 2 0 10
Genomic Research Center,Shahid Beheshti University of Medical Sciences 3 1 3 0 1 0 8
GenomeConnect, ClinGen 0 0 0 0 0 7 7
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 2 0 1 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
Institute of Human Genetics,Klinikum rechts der Isar 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
Claritas Genomics 1 0 0 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
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
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

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