ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1713-4G>A

gnomAD frequency: 0.00002  dbSNP: rs201857960
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Total submissions: 2
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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 RCV000758293 SCV000886947 uncertain significance Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1713-4G>A (NP_002684.1:p.=) [GRCH38: NC_000015.10:g.89325690C>T] variant in POLG gene is interpretated to be a Uncertain Significance 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. Based on the evidence criteria codes applied, the variant is suggested to be Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000758293 SCV001598897 likely benign Progressive sclerosing poliodystrophy 2023-09-18 criteria provided, single submitter clinical testing

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