ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) (rs2307450)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080022 SCV000111916 benign not specified 2013-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000080022 SCV000171092 benign not specified 2013-05-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224640 SCV000281339 benign not provided 2015-05-29 criteria provided, single submitter clinical testing
Invitae RCV000224640 SCV000287665 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000080022 SCV000309132 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320624 SCV000394285 likely benign POLG-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715791 SCV000846622 benign Seizures 2016-05-11 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000080022 SCV000885994 benign not specified 2018-07-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000233567 SCV000887074 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1984G>A (NP_002684.1:p.Glu662Lys) [GRCH38: NC_000015.10:g.89324193C>T] 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.
GeneReviews RCV000020474 SCV000040908 benign Mitochondrial diseases 2012-10-11 no assertion criteria provided curation Converted during submission to Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224640 SCV000802088 benign not provided 2017-10-25 no assertion criteria provided clinical testing

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