ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2266-76T>C

gnomAD frequency: 0.05603  dbSNP: rs3176203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758411 SCV000887107 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2266-76T>C (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89322978A>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. BP6:Reputable source(s) without shared data suggest the variant is benign. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.
GeneDx RCV001644798 SCV001861004 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001644798 SCV005213943 likely benign not provided criteria provided, single submitter not provided

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