ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8425G>A (p.Val2809Met) (rs886059801)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000340442 SCV000452058 uncertain significance APC-Associated Polyposis Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000556737 SCV000647773 uncertain significance Familial adenomatous polyposis 1 2018-08-08 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 2809 of the APC protein (p.Val2809Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with an APC-related disease. ClinVar contains an entry for this variant (Variation ID: 350425). 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.
Ambry Genetics RCV000575689 SCV000667298 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-22 criteria provided, single submitter clinical testing Insufficient evidence

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