ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1586-5del

gnomAD frequency: 0.00891  dbSNP: rs2307434
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180588 SCV000233059 benign not specified 2014-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000180588 SCV000242170 benign not specified 2013-06-13 criteria provided, single submitter clinical testing The variant is found in EPILEPSY,MITONUC-MITOP,CHILD-EPI,INFANT-EPI panel(s).
PreventionGenetics, part of Exact Sciences RCV000180588 SCV000309130 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000466342 SCV000556237 benign Progressive sclerosing poliodystrophy 2025-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314677 SCV000848520 benign Inborn genetic diseases 2016-08-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000466342 SCV000887272 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1586-5del (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89326743del] variant in POLG gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 4A (Alpers type). BS2:Observation of the variant in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 4A (Alpers type). BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. Based on the evidence criteria codes applied, the variant is suggested to be Benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812160 SCV001473061 benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000180588 SCV001476782 benign not specified 2024-01-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847820 SCV002105556 likely benign Hereditary spastic paraplegia 2022-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500523 SCV002810143 benign Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b 2021-08-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.