ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5379-5T>C (rs761910924)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409614 SCV000489509 likely benign Colorectal cancer, susceptibility to, 12 2016-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567417 SCV000674372 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-17 criteria provided, single submitter clinical testing Insufficient evidence;In silico models in agreement (benign)
Invitae RCV000409614 SCV000949404 uncertain significance Colorectal cancer, susceptibility to, 12 2018-11-30 criteria provided, single submitter clinical testing This sequence change falls in intron 39 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 (rs761910924, ExAC 0.003%). This variant has not been reported in the literature in individuals with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 372018). 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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