ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2605C>T (p.Arg869Ter) (rs751376824)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000513535 SCV000608734 likely pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV001226304 SCV001398615 pathogenic Progressive sclerosing poliodystrophy 2019-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg869*) in the POLG gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs751376824, ExAC 0.006%). This variant has been observed in individual(s) with Alpers syndrome (PMID: 26077851). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.2604C>T (p.Arg869Ter) in the literature. ClinVar contains an entry for this variant (Variation ID: 444352). Loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365). For these reasons, this variant has been classified as Pathogenic.

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