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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000224640 SCV000885994 benign not provided 2017-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715791 SCV000846622 benign Seizures 2016-05-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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
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
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.
GeneReviews RCV000020474 SCV000040908 benign Mitochondrial diseases 2012-10-11 no assertion criteria provided curation Converted during submission to Benign.
Illumina Clinical Services Laboratory,Illumina RCV000320624 SCV000394285 likely benign POLG-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000233567 SCV000287665 benign Progressive sclerosing poliodystrophy 2018-01-05 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000224640 SCV000802088 benign not provided 2017-10-25 no assertion criteria provided clinical testing
PreventionGenetics RCV000080022 SCV000309132 benign not specified 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.

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