ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.-6G>A (rs534524789)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657105 SCV000293788 uncertain significance not provided 2018-08-30 criteria provided, single submitter clinical testing This variant is denoted POLE c.-6G>A, and describes a nucleotide substitution 6 base pairs upstream of the POLE start codon. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. POLE c.-6G>A occurs in the Kozak sequence, the conserved nucleotides just upstream of the ATG start codon, and therefore may impact protein translation. POLE c.-6G>A was observed at an allele frequency of 0.069% (8/11474 alleles) in individuals of African ancestry in large population cohorts (Lek 2016). Based on the currently available information, it is unclear whether POLE c.-6G>A is a pathogenic or a benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235598 SCV000602097 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
Mendelics RCV000988958 SCV001138904 uncertain significance Colorectal cancer, susceptibility to, 12 2019-05-28 criteria provided, single submitter clinical testing

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