ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2026A>G (p.Ile676Val) (rs745529713)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226936 SCV000282709 uncertain significance Familial adenomatous polyposis 1 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 676 of the APC protein (p.Ile676Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs745529713, ExAC 0.005%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 236567). 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: "Tolerated"; PolyPhen-2: "Possibly 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 RCV000574116 SCV000675892 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000574116 SCV000681502 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679050 SCV000805376 uncertain significance not provided 2016-11-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679050 SCV000888726 uncertain significance not provided 2018-04-11 criteria provided, single submitter clinical testing

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