ClinVar Miner

Submissions for variant NM_002692.4(POLE2):c.324T>G (p.Pro108=)

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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 RCV003847288 SCV004651126 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing This variant is present in population databases (rs368926840, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POLE2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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. This sequence change affects codon 108 of the POLE2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLE2 protein. It affects a nucleotide within the consensus splice site.

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