ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2687C>T (p.Ala896Val) (rs864622255)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206841 SCV000259863 uncertain significance Familial adenomatous polyposis 1 2015-08-08 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 896 of the APC protein (p.Ala896Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases and has not been reported in the germline of affected individuals in the literature. 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. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000565612 SCV000672546 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)

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