ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7936C>G (p.Gln2646Glu) (rs1554088768)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542034 SCV000647740 uncertain significance Familial adenomatous polyposis 1 2017-06-09 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 2646 of the APC protein (p.Gln2646Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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