ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6716C>T (p.Ala2239Val) (rs190813054)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000466959 SCV000543955 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2239 of the POLE protein (p.Ala2239Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs190813054, ExAC 0.03%). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 405644). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759319 SCV000888573 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing
Molecular Oncology Laboratory,Hospital Clínico San Carlos RCV000466959 SCV000844942 likely benign Colorectal cancer, susceptibility to, 12 2018-06-01 no assertion criteria provided clinical testing

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