ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2220C>T (p.Asn740=) (rs141538857)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717480 SCV000848332 likely benign Seizures 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727336 SCV000707638 uncertain significance not provided 2018-03-06 criteria provided, single submitter clinical testing
GeneDx RCV000249671 SCV000514238 benign not specified 2015-06-05 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 RCV000539923 SCV000630119 likely benign Progressive sclerosing poliodystrophy 2017-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000249671 SCV000309133 likely benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000539923 SCV000887236 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2220C>T (NP_002684.1:p.Asn740=) [GRCH38: NC_000015.10:g.89323449G>A] 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. BP7:The variant is silent with non predicted splice impact. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.

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