ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2598+15T>G

gnomAD frequency: 0.00001  dbSNP: rs1057520997
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418954 SCV000520422 likely benign not specified 2015-10-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519519 SCV003472327 uncertain significance Progressive sclerosing poliodystrophy 2023-10-18 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the POLG gene. It does not directly change the encoded amino acid sequence of the POLG protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 381256). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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