ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1251G>A (p.Arg417=)

gnomAD frequency: 0.00001  dbSNP: rs1567191509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729608 SCV000857282 uncertain significance not provided 2017-10-02 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758352 SCV000887019 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1251G>A (NP_002684.1:p.Arg417=) [GRCH38: NC_000015.10:g.89327349C>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 RCV000758352 SCV001565293 uncertain significance Progressive sclerosing poliodystrophy 2022-04-16 criteria provided, single submitter clinical testing This sequence change affects codon 417 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 (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 594345). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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