ClinVar Miner

Submissions for variant NM_000038.6(APC):c.800G>A (p.Gly267Glu) (rs747759906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530881 SCV000647745 uncertain significance Familial adenomatous polyposis 1 2017-11-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 267 of the APC protein (p.Gly267Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs747759906, ExAC 0.01%). This variant has not been reported in the literature in individuals with an 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, 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.
Ambry Genetics RCV000575724 SCV000667238 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Color RCV000575724 SCV000681901 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing

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