ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2650G>A (p.Ala884Thr) (rs863224540)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195646 SCV000254002 uncertain significance Familial adenomatous polyposis 1 2015-01-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 884 of the APC protein (p.Ala884Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. 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. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000195646 SCV001136897 uncertain significance Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing

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