ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.578G>A (p.Arg193Gln) (rs3176162)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724388 SCV000227268 uncertain significance not provided 2017-11-06 criteria provided, single submitter clinical testing
GeneDx RCV000188543 SCV000242161 likely benign not specified 2018-02-01 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.
Invitae RCV000541557 SCV000630159 likely benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717685 SCV000848541 uncertain significance Seizures 2019-01-30 criteria provided, single submitter clinical testing Insufficient evidence
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000541557 SCV000887102 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.578G>A (NP_002684.1:p.Arg193Gln) [GRCH38: NC_000015.10:g.89333177C>T] variant in POLG gene is interpretated to be a Likely 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001121514 SCV001280139 uncertain significance POLG-Related Spectrum Disorders 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneReviews RCV000020482 SCV000040919 benign Mitochondrial diseases 2012-10-11 no assertion criteria provided curation Converted during submission to Benign.

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