ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3254A>C (p.Lys1085Thr) (rs1561583350)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694618 SCV000823071 uncertain significance Familial adenomatous polyposis 1 2018-07-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with threonine at codon 1085 of the APC protein (p.Lys1085Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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.

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