ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3193C>A (p.Gln1065Lys) (rs1330361513)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560756 SCV000647435 uncertain significance Familial adenomatous polyposis 1 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 1065 of the APC protein (p.Gln1065Lys). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000777269 SCV000912971 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-08 criteria provided, single submitter clinical testing

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