ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.177G>C (p.Lys59Asn) (rs753360358)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470172 SCV000544156 uncertain significance Colorectal cancer, susceptibility to, 12 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 59 of the POLE protein (p.Lys59Asn). The lysine residue is weakly conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs753360358, ExAC 0.007%). This variant has not been reported in the literature in individuals with a POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 405831). 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on POLE function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995019 SCV001148914 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing

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