ClinVar Miner

Submissions for variant NM_002692.4(POLE2):c.1238C>T (p.Thr413Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003116836 SCV003795512 uncertain significance not provided 2023-06-18 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 2427865). This variant has not been reported in the literature in individuals affected with POLE2-related conditions. This variant is present in population databases (rs534333486, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 413 of the POLE2 protein (p.Thr413Ile).

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