ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5543C>G (p.Pro1848Arg) (rs746943534)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000646276 SCV000768044 uncertain significance Familial adenomatous polyposis 1 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 1848 of the APC protein (p.Pro1848Arg). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. 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 disruptive, but 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.

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