ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4492G>A (p.Ala1498Thr)

dbSNP: rs757232557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656178 SCV001199623 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POLE-related conditions. 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 (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. This variant is present in population databases (rs757232557, ExAC 0.006%). This sequence change replaces alanine with threonine at codon 1498 of the POLE protein (p.Ala1498Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321782 SCV004027310 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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