ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2073A>C (p.Val691=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002599150 SCV003494951 uncertain significance Progressive sclerosing poliodystrophy 2022-08-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 691 of the POLG mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLG protein.

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