ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6010A>G (p.Ile2004Val)

gnomAD frequency: 0.00001  dbSNP: rs1029581195
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656242 SCV001209268 uncertain significance not provided 2020-10-13 criteria provided, single submitter clinical testing 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. 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 valine 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. This variant has not been reported in the literature in individuals with POLE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 2004 of the POLE protein (p.Ile2004Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.

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