Submissions for variant NM_000038.6(APC):c.4928G>T (p.Cys1643Phe) (rs748715887)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000525317	SCV000647547	uncertain significance	Familial adenomatous polyposis 1	2017-11-19	criteria provided, single submitter	clinical testing	This sequence change replaces cysteine with phenylalanine at codon 1643 of the APC protein (p.Cys1643Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is present in population databases (rs748715887, ExAC 0.001%). 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; 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.

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