ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2982-1G>C (rs1064793493)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478831 SCV000566251 pathogenic not provided 2015-04-15 criteria provided, single submitter clinical testing The c.2982-1 G>C splice site variant in the POLG gene destroys the canonical splice acceptor site of intron 18. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although c.2982-1 G>C has not been previously reported to our knowledge, it is expected to be a pathogenic variant.

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