ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3491_3492dup (p.Ala1165fs)

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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 RCV003515188 SCV004320383 pathogenic Progressive sclerosing poliodystrophy 2023-09-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1165Leufs*7) in the POLG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLG are known to be pathogenic (PMID: 18546365). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLG-related conditions. For these reasons, this variant has been classified as Pathogenic.

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