ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1102G>T (p.Val368Leu) (rs914534364)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555710 SCV000647160 uncertain significance Familial adenomatous polyposis 1 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 368 of the APC protein (p.Val368Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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