ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4349G>A (p.Arg1450Gln) (rs587782678)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132104 SCV000187169 likely benign Hereditary cancer-predisposing syndrome 2019-03-27 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
Invitae RCV000553891 SCV000647512 uncertain significance Familial adenomatous polyposis 1 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1450 of the APC protein (p.Arg1450Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs587782678, ExAC 0.006%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 142731). 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 glutamine 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590671 SCV000694051 uncertain significance not provided 2015-12-07 criteria provided, single submitter clinical testing
Color Health, Inc RCV000132104 SCV000906433 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing

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