ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6408C>T (p.Gly2136=) (rs1057524549)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431538 SCV000535869 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000467847 SCV000544058 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-12 criteria provided, single submitter clinical testing This sequence change affects codon 2136 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 a POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 392580). 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.
Ambry Genetics RCV000563555 SCV000671395 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-29 criteria provided, single submitter clinical testing Insufficient evidence
PreventionGenetics,PreventionGenetics RCV000679661 SCV000806833 uncertain significance not provided 2017-11-30 criteria provided, single submitter clinical testing

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