ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2994G>C (p.Ser998=) (rs567030498)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000286242 SCV000341676 likely benign not specified 2016-04-26 criteria provided, single submitter clinical testing
GeneDx RCV000286242 SCV000520180 likely benign not specified 2015-10-15 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 RCV000633571 SCV000754817 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712798 SCV000843329 benign not provided 2018-05-08 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000633571 SCV000887247 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2994G>C (NP_002684.1:p.Ser998=) [GRCH38: NC_000015.10:g.89319338C>G] 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. 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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