ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6156G>A (p.Gln2052=) (rs149841283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567582 SCV000671685 likely benign Hereditary cancer-predisposing syndrome 2017-05-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000704272 SCV000833214 uncertain significance Colorectal cancer, susceptibility to, 12 2019-08-22 criteria provided, single submitter clinical testing This sequence change affects codon 2052 of the POLE mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the POLE protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 484585). 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 RCV000995009 SCV001148875 likely benign not provided 2019-05-01 criteria provided, single submitter clinical testing

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