ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5558T>C (p.Ile1853Thr) (rs1057519257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000415723 SCV000653374 uncertain significance Colorectal cancer, susceptibility to, 12 2019-10-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1853 of the POLE protein (p.Ile1853Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLE-related disease. ClinVar contains an entry for this variant (Variation ID: 374971). 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: "Tolerated"; PolyPhen-2: "Benign"; 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415723 SCV000493791 uncertain significance Colorectal cancer, susceptibility to, 12 2016-03-30 no assertion criteria provided clinical testing

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