ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.-7C>T (rs1064796567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482107 SCV000573394 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing This variant is denoted POLE c.-7C>T and describes a nucleotide substitution 7 base pairs upstream of the ATG translational start site in the 5' untranslated region (UTR). The surrounding sequence, with the base that is substituted in brackets, is CCAA[C/T]GGCT. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant is not predicted to affect splicing, and does not appear to affect the Kozak translational consensus sequence, but is predicted to create a new translational start codon. POLE c.-7C>T occurs at a position that is conserved across species. This variant was not observed in approximately 4,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Based on currently available information, it is unclear whether POLE c.-7C>T is pathogenic or benign. We consider it to be a variant of uncertain significance.
Seelig Lab,University of Washington RCV000482107 SCV000897893 not provided not provided no assertion provided in vitro

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