ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7225G>A (p.Gly2409Arg) (rs1554088147)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567129 SCV000672595 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000567129 SCV000913072 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV000795169 SCV000934613 uncertain significance Familial adenomatous polyposis 1 2018-12-03 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2409 of the APC protein (p.Gly2409Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and 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: "Probably Damaging"; 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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