ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2981+2T>G

dbSNP: rs775260762
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065150 SCV001230093 likely pathogenic Progressive sclerosing poliodystrophy 2023-08-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 859116). This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is present in population databases (rs775260762, gnomAD 0.007%). This sequence change affects a donor splice site in intron 18 of the POLG gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365).
Baylor Genetics RCV001065150 SCV004205886 likely pathogenic Progressive sclerosing poliodystrophy 2023-08-22 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003514462 SCV004244542 likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 2023-12-07 criteria provided, single submitter clinical testing PVS1, PM2

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