Variant summary: POLG c.[752C>T;1760C>T] (p.[Thr251Ile;Pro587Leu]) variant is a complex allele and involves the alteration of two nucleotides. The variant allele was found at a frequency of 0.0015 in 249580 control chromosomes in the gnomAD database, including 1 homozygote. c.[752C>T;1760C>T] has been reported in the literature in multiple individuals affected with POLG-Related Spectrum Disorders (e.g. Burusnukul_2009, Tzoulis_2009, Castiglioni_2018, Meira_2019, Piekutowska-Abramczuk_2019, Kierdaszuk_2020). These data indicate that the variant is very likely to be associated with disease. No ClinVar submitters have submitted clinical-significance assessments for this variant to ClinVar after 2014. However, the two nucleotide changes, c.752C>T (p.Thr251Ile) and c.1760C>T (p.Pro587Leu) have been classified independently. For c.752C>T (p.Thr251Ile), eighteen submitters classified the variant as pathogenic, six as likely pathogenic, and 6 as VUS. For c.1760C>T (p.Pro587Leu), eighteen submitters classified the variant as pathogenic, 6 as likely pathogenic, and 4 as VUS. According to the DNA Polymerase Gamma Pathogenicity Prediction Server and Database, 98% of p.Thr251Ile allelic occurrances happen in cis with p.Pro587Leu. Based on the evidence outlined above, the variant was classified as pathogenic.
ClinVar Genomic variation as it relates to human health
NM_002693.3(POLG):c.[1760C>T;752C>T]
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(2)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
2
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This haplotype includes the following variants
NM_002693.3(POLG):c.[1760C>T;752C>T]
- Other names
- -
- Functional consequence
- -
- Links
- -
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| POLG | - | - |
GRCh38 GRCh37 |
1883 | 3025 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
|
Jun 7, 2022 | RCV002271777.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
May 19, 2023 | RCV003482402.2 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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|---|---|---|---|---|---|
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Pathogenic
(Jun 07, 2022)
|
criteria provided, single submitter
Method: clinical testing
|
POLG-Related Spectrum Disorders
Affected status: unknown
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV002555720.1
First in ClinVar: Aug 08, 2022 Last updated: Aug 08, 2022 |
Comment:
Variant summary: POLG c.[752C>T;1760C>T] (p.[Thr251Ile;Pro587Leu]) variant is a complex allele and involves the alteration of two nucleotides. The variant allele was found at a frequency … (more)
Variant summary: POLG c.[752C>T;1760C>T] (p.[Thr251Ile;Pro587Leu]) variant is a complex allele and involves the alteration of two nucleotides. The variant allele was found at a frequency of 0.0015 in 249580 control chromosomes in the gnomAD database, including 1 homozygote. c.[752C>T;1760C>T] has been reported in the literature in multiple individuals affected with POLG-Related Spectrum Disorders (e.g. Burusnukul_2009, Tzoulis_2009, Castiglioni_2018, Meira_2019, Piekutowska-Abramczuk_2019, Kierdaszuk_2020). These data indicate that the variant is very likely to be associated with disease. No ClinVar submitters have submitted clinical-significance assessments for this variant to ClinVar after 2014. However, the two nucleotide changes, c.752C>T (p.Thr251Ile) and c.1760C>T (p.Pro587Leu) have been classified independently. For c.752C>T (p.Thr251Ile), eighteen submitters classified the variant as pathogenic, six as likely pathogenic, and 6 as VUS. For c.1760C>T (p.Pro587Leu), eighteen submitters classified the variant as pathogenic, 6 as likely pathogenic, and 4 as VUS. According to the DNA Polymerase Gamma Pathogenicity Prediction Server and Database, 98% of p.Thr251Ile allelic occurrances happen in cis with p.Pro587Leu. Based on the evidence outlined above, the variant was classified as pathogenic. (less)
|
|
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Pathogenic
(May 19, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
unknown
|
Athena Diagnostics
Accession: SCV004229435.1
First in ClinVar: Jan 26, 2024 Last updated: Jan 26, 2024 |
Comment:
This complex variant comprises two single nucleotide variants: c.752C>T and c.1760C>T. In nearly all published cases these have been observed on the same chromosome (in … (more)
This complex variant comprises two single nucleotide variants: c.752C>T and c.1760C>T. In nearly all published cases these have been observed on the same chromosome (in cis), and are considered as a single pathogenic allele here. The frequency of each single nucleotide variant in the general population is consistent with pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). In multiple individuals with POLG-related disease, this allele has been seen in trans with a recessive pathogenic variant in the POLG gene, suggesting this allele is also pathogenic. This variant appears to segregate with disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 33579567, 28154168) (less)
|
Comment:
Comment:
This complex variant comprises two single nucleotide variants: c.752C>T and c.1760C>T. In nearly all published cases these have been observed on the same chromosome (in cis), and are considered as a single pathogenic allele here. The frequency of each single nucleotide variant in the general population is consistent with pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). In multiple individuals with POLG-related disease, this allele has been seen in trans with a recessive pathogenic variant in the POLG gene, suggesting this allele is also pathogenic. This variant appears to segregate with disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 33579567, 28154168)
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
Variant summary: POLG c.[752C>T;1760C>T] (p.[Thr251Ile;Pro587Leu]) variant is a complex allele and involves the alteration of two nucleotides. The variant allele was found at a frequency of 0.0015 in 249580 control chromosomes in the gnomAD database, including 1 homozygote. c.[752C>T;1760C>T] has been reported in the literature in multiple individuals affected with POLG-Related Spectrum Disorders (e.g. Burusnukul_2009, Tzoulis_2009, Castiglioni_2018, Meira_2019, Piekutowska-Abramczuk_2019, Kierdaszuk_2020). These data indicate that the variant is very likely to be associated with disease. No ClinVar submitters have submitted clinical-significance assessments for this variant to ClinVar after 2014. However, the two nucleotide changes, c.752C>T (p.Thr251Ile) and c.1760C>T (p.Pro587Leu) have been classified independently. For c.752C>T (p.Thr251Ile), eighteen submitters classified the variant as pathogenic, six as likely pathogenic, and 6 as VUS. For c.1760C>T (p.Pro587Leu), eighteen submitters classified the variant as pathogenic, 6 as likely pathogenic, and 4 as VUS. According to the DNA Polymerase Gamma Pathogenicity Prediction Server and Database, 98% of p.Thr251Ile allelic occurrances happen in cis with p.Pro587Leu. Based on the evidence outlined above, the variant was classified as pathogenic.
Comment:
This complex variant comprises two single nucleotide variants: c.752C>T and c.1760C>T. In nearly all published cases these have been observed on the same chromosome (in cis), and are considered as a single pathogenic allele here. The frequency of each single nucleotide variant in the general population is consistent with pathogenicity (Genome Aggregation Database (gnomAD), Cambridge, MA (URL: http://gnomad.broadinstitute.org)). In multiple individuals with POLG-related disease, this allele has been seen in trans with a recessive pathogenic variant in the POLG gene, suggesting this allele is also pathogenic. This variant appears to segregate with disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 33579567, 28154168)
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| POLG-Related Disorders. | Adam MP | - | 2024 | PMID: 20301791 |
| POLG-Related Disorders. | Adam MP | - | 2024 | PMID: 20301791 |
| NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly. | Pomarino D | Global medical genetics | 2023 | PMID: 37091313 |
| NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly. | Pomarino D | Global medical genetics | 2023 | PMID: 37091313 |
| Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report. | Lang-Orsini M | Frontiers in neurology | 2022 | PMID: 35350396 |
| Neuropathic Pain as Main Manifestation of POLG-Related Disease: A Case Report. | Lang-Orsini M | Frontiers in neurology | 2022 | PMID: 35350396 |
| Forecasting stroke-like episodes and outcomes in mitochondrial disease. | Ng YS | Brain : a journal of neurology | 2022 | PMID: 34927673 |
| Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report. | Franklin AD | Frontiers in genetics | 2021 | PMID: 34194468 |
| Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. | Marinakis NM | American journal of medical genetics. Part A | 2021 | PMID: 34008892 |
| DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. | Silva-Pinheiro P | Nucleic acids research | 2021 | PMID: 33956154 |
| DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion. | Silva-Pinheiro P | Nucleic acids research | 2021 | PMID: 33956154 |
| Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy. | Darin N | Neuromuscular disorders : NMD | 2021 | PMID: 33579567 |
| Functional analysis of a novel POLγA mutation associated with a severe perinatal mitochondrial encephalomyopathy. | Darin N | Neuromuscular disorders : NMD | 2021 | PMID: 33579567 |
| Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. | Kierdaszuk B | Genes | 2020 | PMID: 33396418 |
| Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. | Kierdaszuk B | Genes | 2020 | PMID: 33396418 |
| Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. | Wiedemann A | Journal of human genetics | 2020 | PMID: 31645654 |
| Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis. | Wiedemann A | Journal of human genetics | 2020 | PMID: 31645654 |
| Late-onset presentation of POLG1-associated mitochondrial disease. | Meira B | BMJ case reports | 2019 | PMID: 30936349 |
| Late-onset presentation of POLG1-associated mitochondrial disease. | Meira B | BMJ case reports | 2019 | PMID: 30936349 |
| Late-onset presentation of POLG1-associated mitochondrial disease. | Meira B | BMJ case reports | 2019 | PMID: 30936349 |
| The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. | Piekutowska-Abramczuk D | Mitochondrion | 2019 | PMID: 30423451 |
| The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. | Piekutowska-Abramczuk D | Mitochondrion | 2019 | PMID: 30423451 |
| The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort. | Piekutowska-Abramczuk D | Mitochondrion | 2019 | PMID: 30423451 |
| Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. | Masingue M | Mitochondrion | 2019 | PMID: 29474836 |
| Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. | Masingue M | Mitochondrion | 2019 | PMID: 29474836 |
| Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. | Masingue M | Mitochondrion | 2019 | PMID: 29474836 |
| High-frequency actionable pathogenic exome variants in an average-risk cohort. | Rego S | Cold Spring Harbor molecular case studies | 2018 | PMID: 30487145 |
| High-frequency actionable pathogenic exome variants in an average-risk cohort. | Rego S | Cold Spring Harbor molecular case studies | 2018 | PMID: 30487145 |
| Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. | Theunissen TEJ | Frontiers in genetics | 2018 | PMID: 30369941 |
| Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause. | Theunissen TEJ | Frontiers in genetics | 2018 | PMID: 30369941 |
| The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. | Reuter MS | CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne | 2018 | PMID: 29431110 |
| Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. | Castiglioni C | European journal of human genetics : EJHG | 2018 | PMID: 29358615 |
| Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. | Castiglioni C | European journal of human genetics : EJHG | 2018 | PMID: 29358615 |
| Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. | Castiglioni C | European journal of human genetics : EJHG | 2018 | PMID: 29358615 |
| Decreased male reproductive success in association with mitochondrial dysfunction. | Martikainen MH | European journal of human genetics : EJHG | 2017 | PMID: 28812649 |
| The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. | Hikmat O | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28471437 |
| The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. | Hikmat O | Genetics in medicine : official journal of the American College of Medical Genetics | 2017 | PMID: 28471437 |
| Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. | DeBalsi KL | The Journal of biological chemistry | 2017 | PMID: 28154168 |
| Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. | DeBalsi KL | The Journal of biological chemistry | 2017 | PMID: 28154168 |
| Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. | DeBalsi KL | The Journal of biological chemistry | 2017 | PMID: 28154168 |
| Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. | Da Pozzo P | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2017 | PMID: 28130605 |
| Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. | Da Pozzo P | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2017 | PMID: 28130605 |
| Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. | Da Pozzo P | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology | 2017 | PMID: 28130605 |
| The wide POLG-related spectrum: An integrated view. | Béreau M | Journal of the neurological sciences | 2016 | PMID: 27538604 |
| The wide POLG-related spectrum: An integrated view. | Béreau M | Journal of the neurological sciences | 2016 | PMID: 27538604 |
| The wide POLG-related spectrum: An integrated view. | Béreau M | Journal of the neurological sciences | 2016 | PMID: 27538604 |
| Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes. | Fragaki K | Biological research | 2016 | PMID: 26742794 |
| Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. | Chrysostomou A | Neuropathology and applied neurobiology | 2016 | PMID: 26337858 |
| Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. | Chrysostomou A | Neuropathology and applied neurobiology | 2016 | PMID: 26337858 |
| Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease. | Chrysostomou A | Neuropathology and applied neurobiology | 2016 | PMID: 26337858 |
| The spectrum of epilepsy caused by POLG mutations. | Janssen W | Acta neurologica Belgica | 2016 | PMID: 26104464 |
| The spectrum of epilepsy caused by POLG mutations. | Janssen W | Acta neurologica Belgica | 2016 | PMID: 26104464 |
| The spectrum of epilepsy caused by POLG mutations. | Janssen W | Acta neurologica Belgica | 2016 | PMID: 26104464 |
| Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties. | Singh B | PloS one | 2015 | PMID: 26468652 |
| Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties. | Singh B | PloS one | 2015 | PMID: 26468652 |
| Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties. | Singh B | PloS one | 2015 | PMID: 26468652 |
| Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. | Wahbi K | European heart journal | 2015 | PMID: 26224072 |
| Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases. | Wahbi K | European heart journal | 2015 | PMID: 26224072 |
| Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. | Komulainen T | JIMD reports | 2015 | PMID: 25940035 |
| Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. | Komulainen T | JIMD reports | 2015 | PMID: 25940035 |
| Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes. | Komulainen T | JIMD reports | 2015 | PMID: 25940035 |
| Mitochondrial dysfunction and risk of cancer. | Lund M | British journal of cancer | 2015 | PMID: 25742477 |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. | Scuderi C | Neuromuscular disorders : NMD | 2015 | PMID: 25660390 |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. | Scuderi C | Neuromuscular disorders : NMD | 2015 | PMID: 25660390 |
| The in cis T251I and P587L POLG1 base changes: description of a new family and literature review. | Scuderi C | Neuromuscular disorders : NMD | 2015 | PMID: 25660390 |
| Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease. | Gui YX | Parkinsonism & related disorders | 2015 | PMID: 25585994 |
| Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. | Farnum GA | Biochimica et biophysica acta | 2014 | PMID: 24508722 |
| Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes. | Farnum GA | Biochimica et biophysica acta | 2014 | PMID: 24508722 |
| Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. | Rouzier C | European journal of human genetics : EJHG | 2014 | PMID: 23921535 |
| Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease. | Ylönen S | Journal of neurology | 2013 | PMID: 24122062 |
| Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease. | Ylönen S | Journal of neurology | 2013 | PMID: 24122062 |
| The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons. | Reeve A | The Journal of neuroscience : the official journal of the Society for Neuroscience | 2013 | PMID: 23804100 |
| The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons. | Reeve A | The Journal of neuroscience : the official journal of the Society for Neuroscience | 2013 | PMID: 23804100 |
| The impact of pathogenic mitochondrial DNA mutations on substantia nigra neurons. | Reeve A | The Journal of neuroscience : the official journal of the Society for Neuroscience | 2013 | PMID: 23804100 |
| Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. | Helbling D | Journal of pediatric gastroenterology and nutrition | 2013 | PMID: 23783014 |
| Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. | Helbling D | Journal of pediatric gastroenterology and nutrition | 2013 | PMID: 23783014 |
| The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. | Dames S | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23665194 |
| The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. | Dames S | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23665194 |
| The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. | Dames S | The Journal of molecular diagnostics : JMD | 2013 | PMID: 23665194 |
| Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. | Uusimaa J | Epilepsia | 2013 | PMID: 23448099 |
| Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. | Uusimaa J | Epilepsia | 2013 | PMID: 23448099 |
| POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. | Cheldi A | BMC neurology | 2013 | PMID: 23324391 |
| POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. | Cheldi A | BMC neurology | 2013 | PMID: 23324391 |
| POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. | Cheldi A | BMC neurology | 2013 | PMID: 23324391 |
| A novel POLG gene mutation in a patient with SANDO. | Kurt B | Journal of experimental and integrative medicine | 2012 | PMID: 24265579 |
| Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. | Gáti I | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2011 | PMID: 22616202 |
| Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. | Gáti I | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2011 | PMID: 22616202 |
| Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. | Tang S | Journal of medical genetics | 2011 | PMID: 21880868 |
| Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. | Tang S | Journal of medical genetics | 2011 | PMID: 21880868 |
| Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. | Tang S | Journal of medical genetics | 2011 | PMID: 21880868 |
| POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. | Stewart JD | Biochimica et biophysica acta | 2011 | PMID: 21138766 |
| POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. | Stewart JD | Biochimica et biophysica acta | 2011 | PMID: 21138766 |
| POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts. | Stewart JD | Biochimica et biophysica acta | 2011 | PMID: 21138766 |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. | Weiss MD | Muscle & nerve | 2010 | PMID: 20513108 |
| Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. | Weiss MD | Muscle & nerve | 2010 | PMID: 20513108 |
| Is it ADEM, POLG, or both? | Harris MO | Archives of neurology | 2010 | PMID: 20385918 |
| Is it ADEM, POLG, or both? | Harris MO | Archives of neurology | 2010 | PMID: 20385918 |
| Is it ADEM, POLG, or both? | Harris MO | Archives of neurology | 2010 | PMID: 20385918 |
| The unfolding clinical spectrum of POLG mutations. | Blok MJ | Journal of medical genetics | 2009 | PMID: 19578034 |
| The unfolding clinical spectrum of POLG mutations. | Blok MJ | Journal of medical genetics | 2009 | PMID: 19578034 |
| The unfolding clinical spectrum of POLG mutations. | Blok MJ | Journal of medical genetics | 2009 | PMID: 19578034 |
| Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. | Tzoulis C | Acta neurologica Scandinavica. Supplementum | 2009 | PMID: 19566497 |
| Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. | Tzoulis C | Acta neurologica Scandinavica. Supplementum | 2009 | PMID: 19566497 |
| Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. | Tzoulis C | Acta neurologica Scandinavica. Supplementum | 2009 | PMID: 19566497 |
| Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. | Stewart JD | Journal of medical genetics | 2009 | PMID: 19251978 |
| Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. | Stewart JD | Journal of medical genetics | 2009 | PMID: 19251978 |
| Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. | Stewart JD | Journal of medical genetics | 2009 | PMID: 19251978 |
| Phenotypic variations in 3 children with POLG1 mutations. | Burusnukul P | Journal of child neurology | 2009 | PMID: 19189930 |
| Phenotypic variations in 3 children with POLG1 mutations. | Burusnukul P | Journal of child neurology | 2009 | PMID: 19189930 |
| Phenotypic variations in 3 children with POLG1 mutations. | Burusnukul P | Journal of child neurology | 2009 | PMID: 19189930 |
| Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. | Taanman JW | Human mutation | 2009 | PMID: 18828154 |
| Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. | Taanman JW | Human mutation | 2009 | PMID: 18828154 |
| Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. | Taanman JW | Human mutation | 2009 | PMID: 18828154 |
| Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. | Wong LJ | Human mutation | 2008 | PMID: 18546365 |
| Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. | Ashley N | Human molecular genetics | 2008 | PMID: 18487244 |
| Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. | Ashley N | Human molecular genetics | 2008 | PMID: 18487244 |
| Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family. | Houinato D | Neuromuscular disorders : NMD | 2007 | PMID: 17418573 |
| Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | Horvath R | Brain : a journal of neurology | 2006 | PMID: 16621917 |
| Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. | Horvath R | Brain : a journal of neurology | 2006 | PMID: 16621917 |
| Molecular diagnosis of Alpers syndrome. | Nguyen KV | Journal of hepatology | 2006 | PMID: 16545482 |
| Molecular diagnosis of Alpers syndrome. | Nguyen KV | Journal of hepatology | 2006 | PMID: 16545482 |
| Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. | González-Vioque E | Archives of neurology | 2006 | PMID: 16401742 |
| Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Ferrari G | Brain : a journal of neurology | 2005 | PMID: 15689359 |
| Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Ferrari G | Brain : a journal of neurology | 2005 | PMID: 15689359 |
| Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. | Ferrari G | Brain : a journal of neurology | 2005 | PMID: 15689359 |
| Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. | Lamantea E | Annals of neurology | 2004 | PMID: 15349879 |
| Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. | Lamantea E | Annals of neurology | 2004 | PMID: 15349879 |
| Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. | Lamantea E | Annals of neurology | 2004 | PMID: 15349879 |
| POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. | Di Fonzo A | Human mutation | 2003 | PMID: 14635118 |
| POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. | Di Fonzo A | Human mutation | 2003 | PMID: 14635118 |
| POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. | Di Fonzo A | Human mutation | 2003 | PMID: 14635118 |
| Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. | Filosto M | Archives of neurology | 2003 | PMID: 12975295 |
| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Goethem G | European journal of human genetics : EJHG | 2003 | PMID: 12825077 |
| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Goethem G | European journal of human genetics : EJHG | 2003 | PMID: 12825077 |
| Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. | Van Goethem G | European journal of human genetics : EJHG | 2003 | PMID: 12825077 |
| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). | Agostino A | Neurology | 2003 | PMID: 12707443 |
| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). | Agostino A | Neurology | 2003 | PMID: 12707443 |
| Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). | Agostino A | Neurology | 2003 | PMID: 12707443 |
| Multiple mtDNA deletions with features of MNGIE. | Vissing J | Neurology | 2002 | PMID: 12297582 |
| Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | Lamantea E | Annals of neurology | 2002 | PMID: 12210792 |
| Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | Lamantea E | Annals of neurology | 2002 | PMID: 12210792 |
| Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. | Lamantea E | Annals of neurology | 2002 | PMID: 12210792 |
| Muscle weakness in a Japanese family of Arg1239His mutation hypokalemic periodic paralysis. | Kusumi M | Psychiatry and clinical neurosciences | 2001 | PMID: 11555352 |
| Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families. | Elbaz A | American journal of human genetics | 1995 | PMID: 7847370 |
| Ready-mix charcoal/sorbitol. | Jessen LM | Annals of emergency medicine | 1992 | PMID: 1539879 |
| http://tools.niehs.nih.gov/polg/ | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POLG | - | - | - | - |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POLG | - | - | - | - |
| https://www.ncbi.nlm.nih.gov/books/NBK26471/ | - | - | - | - |
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Text-mined citations for this variant ...
HelpRecord last updated Nov 30, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.