ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.721-13GT[2] (rs752682384)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411105 SCV000489413 likely benign Colorectal cancer, susceptibility to, 12 2016-09-30 criteria provided, single submitter clinical testing
Invitae RCV000411105 SCV000544125 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the POLE gene. It does not directly change the encoded amino acid sequence of the POLE protein. This variant is present in population databases (rs752682384, ExAC 0.03%). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 371991). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. 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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