Submissions for variant NM_000038.6(APC):c.139G>A (p.Val47Ile) (rs969611536)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462825	SCV000552627	uncertain significance	Familial adenomatous polyposis 1	2018-07-23	criteria provided, single submitter	clinical testing	This sequence change replaces valine with isoleucine at codon 47 of the APC protein (p.Val47Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. 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. ClinVar contains an entry for this variant (Variation ID: 411459). 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: "Tolerated"; 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.
Color	RCV000775730	SCV000910154	uncertain significance	Hereditary cancer-predisposing syndrome	2018-06-19	criteria provided, single submitter	clinical testing

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