ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.3459+8C>T (rs375852759)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000477409 SCV000544102 uncertain significance Colorectal cancer, susceptibility to, 12 2019-11-25 criteria provided, single submitter clinical testing This sequence change falls in intron 28 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 (rs375852759, ExAC 0.006%). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 405781). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995015 SCV001148892 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing

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