ClinVar Miner

Submissions for variant NM_002692.4(POLE2):c.576G>A (p.Glu192=)

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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 RCV002843770 SCV003219807 uncertain significance not provided 2022-07-11 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 192 of the POLE2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLE2 protein. This variant also falls at the last nucleotide of exon 7, which is part of the consensus splice site for this exon. This variant has not been reported in the literature in individuals affected with POLE2-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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