Submissions for variant NM_000038.6(APC):c.2909G>A (p.Ser970Asn) (rs767473403)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000539743	SCV000647282	uncertain significance	Familial adenomatous polyposis 1	2017-06-23	criteria provided, single submitter	clinical testing	This sequence change replaces serine with asparagine at codon 970 of the APC protein (p.Ser970Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is present in population databases (rs767473403, ExAC 0.006%). 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: "Possibly 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.
Color	RCV000579991	SCV000681561	uncertain significance	Hereditary cancer-predisposing syndrome	2018-08-25	criteria provided, single submitter	clinical testing

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