ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3386A>G (p.Asp1129Gly)

dbSNP: rs2042569982
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202393 SCV001373503 uncertain significance Colorectal cancer, susceptibility to, 12 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1129 of the POLE protein (p.Asp1129Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.

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