ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7654A>T (p.Ser2552Cys) (rs1554088567)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544458 SCV000647723 uncertain significance Familial adenomatous polyposis 1 2017-04-07 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 2552 of the APC protein (p.Ser2552Cys). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000569478 SCV000667718 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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