ClinVar Miner

Submissions for variant NM_000038.6(APC):c.682A>G (p.Ile228Val) (rs1554074757)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526364 SCV000647670 uncertain significance Familial adenomatous polyposis 1 2017-06-26 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 228 of the APC protein (p.Ile228Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 RCV000777181 SCV000912872 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-29 criteria provided, single submitter clinical testing
Clinical Genomics Lab,St. Jude Children's Research Hospital RCV000761142 SCV000891058 uncertain significance B lymphoblastic leukemia lymphoma with hyperdiploidy 2017-01-09 no assertion criteria provided clinical testing

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