ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5203G>T (p.Ala1735Ser)

dbSNP: rs2042150896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656754 SCV001415038 uncertain significance not provided 2020-09-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with POLE-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. This sequence change replaces alanine with serine at codon 1735 of the POLE protein (p.Ala1735Ser). The alanine residue is highly conserved and there is a moderate physicochemical difference between alanine and serine.

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