ClinVar Miner

Submissions for variant NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) (rs41550117)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153756 SCV000242154 benign not specified 2014-09-30 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP,EPILEPSY panel(s).
Genetic Services Laboratory,University of Chicago RCV000153756 SCV000248554 benign not specified 2013-10-30 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000153756 SCV000257925 likely benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714693 SCV000845415 benign POLG-Related Spectrum Disorders 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715379 SCV000846208 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758545 SCV000887271 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.156_158dup (NP_002684.1:p.Gln53_Gln54insGln) [GRCH38: NC_000015.10:g.89333627_89333629dup] 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153756 SCV000203330 benign not specified 2014-02-19 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676330 SCV000802100 benign not provided 2016-02-22 no assertion criteria provided clinical testing

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