ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.3198G>A (p.Thr1066=) (rs61752780)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000715561 SCV000846390 likely benign Seizures 2016-04-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Athena Diagnostics Inc RCV000127533 SCV000614722 benign not specified 2017-06-30 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127533 SCV000333196 benign not specified 2015-08-06 criteria provided, single submitter clinical testing
GeneDx RCV000127533 SCV000171110 benign not specified 2012-05-08 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 RCV000127533 SCV000596500 likely benign not specified 2015-10-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338380 SCV000394268 uncertain significance POLG-Related Spectrum Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475971 SCV000556227 benign Progressive sclerosing poliodystrophy 2018-01-08 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000676319 SCV000802078 benign not provided 2016-02-26 no assertion criteria provided clinical testing
PreventionGenetics RCV000127533 SCV000309140 benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000475971 SCV000887276 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.3198G>A (NP_002684.1:p.Thr1066=) [GRCH38: NC_000015.10:g.89319006C>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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