ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.-25_10dup (p.Leu4delinsProAlaTrpGlySerLeuHisGlnProTer)

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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 RCV002807349 SCV003196374 uncertain significance Progressive sclerosing poliodystrophy 2022-05-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POLG-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is also known as c.-25_10dup (p.Leu4Profs*10). This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the POLG gene. It does not change the encoded amino acid sequence of the POLG protein.

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