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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