ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6004+5G>T (rs372169366)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206794 SCV000261529 benign Colorectal cancer, susceptibility to, 12 2019-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000482029 SCV000567812 likely benign not specified 2018-02-08 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.
Ambry Genetics RCV000573861 SCV000671288 likely benign Hereditary cancer-predisposing syndrome 2018-12-24 criteria provided, single submitter clinical testing Other data supporting benign classification;Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000482029 SCV000712556 uncertain significance not specified 2016-11-15 criteria provided, single submitter clinical testing The c.6004+5G>T variant in POLE has not been previously reported in individuals with colorectal cancer but has been identified in 22/65018 of European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs372169366). This variant is located in the 5' splice region. Although nucl eotide substitutions at +5 position of the intron are relatively common causes o f aberrant splicing, computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.6004+5G>T variant is uncertain.
Counsyl RCV000206794 SCV000786181 uncertain significance Colorectal cancer, susceptibility to, 12 2018-03-13 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000573861 SCV000886715 likely benign Hereditary cancer-predisposing syndrome 2018-07-11 no assertion criteria provided clinical testing

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