ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.516G>A (p.Ala172=) (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.
Invitae RCV000758391 SCV001560409 uncertain significance Progressive sclerosing poliodystrophy 2020-08-26 criteria provided, single submitter clinical testing This sequence change affects codon 172 of the POLG mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLG protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 619379). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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