ClinVar Miner

Submissions for variant NM_007215.4(POLG2):c.973C>T (p.Arg325Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004592280 SCV005078496 uncertain significance not provided 2024-04-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Deletion involving a gene for which loss of function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV004592280 SCV005697373 pathogenic not provided 2024-10-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg325*) in the POLG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLG2 are known to be pathogenic (PMID: 28078310, 29625556). This variant is present in population databases (no rsID available, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLG2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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