ClinVar Miner

Submissions for variant NM_000038.6(APC):c.665A>T (p.Gln222Leu) (rs1554074733)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541927 SCV000647657 uncertain significance Familial adenomatous polyposis 1 2017-06-22 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 222 of the APC protein (p.Gln222Leu). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and leucine. 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: "Benign"; 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.
Color RCV000580236 SCV000681813 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-27 criteria provided, single submitter clinical testing

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