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	2017-09-19	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Other strong data supporting benign classification,In silico models in agreement (benign)
Invitae	RCV000553891	SCV000647512	uncertain significance	Familial adenomatous polyposis 1	2018-12-19	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.
Integrated Genetics/Laboratory Corporation of America	RCV000590671	SCV000694051	uncertain significance	not provided	2015-12-07	criteria provided, single submitter	clinical testing
Color	RCV000132104	SCV000906433	uncertain significance	Hereditary cancer-predisposing syndrome	2018-07-20	criteria provided, single submitter	clinical testing

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