ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.264C>T (p.Phe88=) (rs144439703)

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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 RCV000718381 SCV000849243 likely benign Seizures 2016-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000436920 SCV000843326 likely benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436920 SCV000511358 likely benign not provided 2016-11-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000118014 SCV000257928 benign not specified 2015-02-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118014 SCV000703930 likely benign not specified 2016-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000118014 SCV000171125 benign not specified 2013-03-25 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 RCV000118014 SCV000152332 likely benign not specified 2014-03-24 criteria provided, single submitter clinical testing
Invitae RCV000227341 SCV000287666 benign Progressive sclerosing poliodystrophy 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000118014 SCV000309137 likely benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine RCV000227341 SCV000887079 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.264C>T (NP_002684.1:p.Phe88=) [GRCH38: NC_000015.10:g.89333491G>A] 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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