ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7471A>G (p.Met2491Val) (rs375674083)

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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 RCV000222149 SCV000275435 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000232400 SCV000282822 uncertain significance Familial adenomatous polyposis 1 2018-12-15 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 2491 of the APC protein (p.Met2491Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs375674083, ExAC 0.04%). This variant has been reported in two individuals affected with breast cancer and colorectal cancer (PMID: 28503720, 28135145). ClinVar contains an entry for this variant (Variation ID: 231549). 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 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.
Counsyl RCV000232400 SCV000489391 uncertain significance Familial adenomatous polyposis 1 2016-10-03 criteria provided, single submitter clinical testing
Mendelics RCV000232400 SCV000838149 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758743 SCV000887553 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing
Color RCV000222149 SCV000909629 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-03 criteria provided, single submitter clinical testing

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