ClinVar Miner

Submissions for variant NM_000038.6(APC):c.811A>G (p.Met271Val) (rs587781464)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677764 SCV000803920 uncertain significance Rectal Adenocarcinoma 2017-09-16 no assertion criteria provided clinical testing
Ambry Genetics RCV000129401 SCV000184169 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000129401 SCV000911729 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV000206602 SCV000260249 uncertain significance Familial adenomatous polyposis 1 2018-09-13 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 271 of the APC protein (p.Met271Val). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs587781464, ExAC 0.002%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 141061). 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 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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