ClinVar Miner

Submissions for variant NM_000038.6(APC):c.638G>A (p.Arg213Gln) (rs1235428754)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544639 SCV000647640 uncertain significance Familial adenomatous polyposis 1 2017-06-07 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 213 of the APC protein (p.Arg213Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Universal Mutation Database (PMID: 24599579). However, in that individual a pathogenic allele was also identified in APC, which suggests that this c.638G>A variant was not the primary cause of disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000583903 SCV000687077 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000602624 SCV000712783 uncertain significance not specified 2017-01-25 criteria provided, single submitter clinical testing The p.Arg213Gln variant in APC has not been previously reported in individuals w ith APC-associated polyposis or in large population studies. Computational predi ction tools and conservation analysis do not clearly argue for or against an imp act to the protein. In summary, the clinical significance of the p.Arg213Gln var iant is uncertain.

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