ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6790G>T (p.Gly2264Cys) (rs755904252)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000476804 SCV000552480 uncertain significance Familial adenomatous polyposis 1 2016-12-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 2264 of the APC protein (p.Gly2264Cys). The glycine residue is moderately conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs755904252, ExAC 0.009%) 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 output the following: (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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. 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.
Ambry Genetics RCV000571190 SCV000676364 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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