ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.2964G>A (p.Ser988=) (rs200080353)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000227365 SCV000289315 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-22 criteria provided, single submitter clinical testing This sequence change affects codon 988 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 present in population databases (rs200080353, ExAC 0.01%). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 240451). 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.
GeneDx RCV000429696 SCV000521937 likely benign not specified 2015-12-04 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000429696 SCV000602021 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570893 SCV000676218 likely benign Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign

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