ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.516G>A (p.Ala172=)

gnomAD frequency: 0.00002  dbSNP: rs1028326668
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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 RCV000758391 SCV000887068 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.516G>A (NP_002684.1:p.Ala172=) [GRCH38: NC_000015.10:g.89333239C>T] 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000758391 SCV001560409 likely benign Progressive sclerosing poliodystrophy 2024-01-13 criteria provided, single submitter clinical testing

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