ClinVar Miner

Submissions for variant NM_000038.5(APC):c.5708A>G (p.Asn1903Ser) (rs750404000)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000569562 SCV000667423 likely benign Hereditary cancer-predisposing syndrome 2017-10-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting benign classification
Color RCV000569562 SCV000906781 likely benign Hereditary cancer-predisposing syndrome 2016-09-02 criteria provided, single submitter clinical testing
Counsyl RCV000229356 SCV000489046 uncertain significance Familial adenomatous polyposis 1 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV000229356 SCV000282784 uncertain significance Familial adenomatous polyposis 1 2016-07-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1903 of the APC protein (p.Asn1903Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is present in population databases (rs750404000, ExAC 0.03%) but 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506645 SCV000600117 uncertain significance not specified 2017-04-28 criteria provided, single submitter clinical testing

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