ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8161C>T (p.Arg2721Cys) (rs587782312)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131206 SCV000186156 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000412203 SCV000489474 uncertain significance Familial adenomatous polyposis 1 2016-10-11 criteria provided, single submitter clinical testing
Color RCV000131206 SCV000681913 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679089 SCV000805478 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Mendelics RCV000412203 SCV000838161 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000412203 SCV000962555 uncertain significance Familial adenomatous polyposis 1 2018-08-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 2721 of the APC protein (p.Arg2721Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with colon cancer (PMID: 25559809). ClinVar contains an entry for this variant (Variation ID: 142214). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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