ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3631A>G (p.Met1211Val) (rs780084585)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537160 SCV000647462 uncertain significance Familial adenomatous polyposis 1 2017-05-04 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 1211 of the APC protein (p.Met1211Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs780084585, ExAC 0.009%). This variant has been reported in an individual from a family affected with attenuated familial adenomatous polyposis  (PMID: 20434453). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine 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. It has been reported in both the population and affected individuals, but the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000563324 SCV000672580 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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