ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.5912A>G (p.Asn1971Ser) (rs772127913)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505854 SCV000602076 uncertain significance not specified 2016-11-30 criteria provided, single submitter clinical testing
Invitae RCV000650936 SCV000772785 uncertain significance Colorectal cancer, susceptibility to, 12 2019-10-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1971 of the POLE protein (p.Asn1971Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs772127913, ExAC 0.01%). This variant has been observed in combination with another POLE variant in an individual affected with FILS (facial dysmorphism, immunodeficiency, livedo, and short stature) syndrome (PMID: 30049826). ClinVar contains an entry for this variant (Variation ID: 439278). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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.
Centre for Translational Omics - GOSgene,University College London RCV000659250 SCV000778566 likely pathogenic Facial dysmorphism, immunodeficiency, livedo, and short stature 2018-03-16 criteria provided, single submitter clinical testing

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