ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.266A>C (p.Asp89Ala) (rs756843283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462877 SCV000544232 uncertain significance Colorectal cancer, susceptibility to, 12 2019-11-14 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with alanine at codon 89 of the POLE protein (p.Asp89Ala). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. This variant is present in population databases (rs756843283, ExAC 0.02%). This variant has not been reported in the literature in individuals with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 405904). 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000507635 SCV000602012 uncertain significance not specified 2016-12-28 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763821 SCV000894738 uncertain significance Colorectal cancer, susceptibility to, 12; Facial dysmorphism, immunodeficiency, livedo, and short stature 2018-10-31 criteria provided, single submitter clinical testing

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