ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7843A>G (p.Ile2615Val) (rs863224550)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196896 SCV000254040 uncertain significance Familial adenomatous polyposis 1 2015-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 2615 of the APC protein (p.Ile2615Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant has not been published in the literature and is not present in population databases. 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. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000574010 SCV000667773 uncertain significance Hereditary cancer-predisposing syndrome 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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