ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.134A>G (p.Gln45Arg) (rs201016638)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175733 SCV000227272 likely benign not specified 2015-05-27 criteria provided, single submitter clinical testing
GeneDx RCV000175733 SCV000242142 likely benign not specified 2018-01-16 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.
Genetic Services Laboratory,University of Chicago RCV000175733 SCV000248551 likely benign not specified 2016-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000175733 SCV000309129 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000461738 SCV000556228 likely benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710182 SCV000614700 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716809 SCV000847653 likely benign Seizures 2018-12-19 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000461738 SCV000887094 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.134A>G (NP_002684.1:p.Gln45Arg) [GRCH38: NC_000015.10:g.89333621T>C] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant has been reported in PMID:19578034 . 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). BP3:This variant results in inframe indel in repeats without known function. 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 Likely Benign.

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