ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1481G>A (p.Ser494Asn) (rs1554081691)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582998 SCV000686833 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
Invitae RCV000685293 SCV000812771 uncertain significance Familial adenomatous polyposis 1 2018-04-30 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 494 of the APC protein (p.Ser494Asn). The serine residue is highly conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 490207). 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: "Benign"; Align-GVGD: "Class C45"). 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 RCV000780841 SCV000918448 uncertain significance not specified 2017-09-28 criteria provided, single submitter clinical testing Variant summary: The APC c.1481G>A (p.Ser494Asn) variant involves the alteration of a conserved nucleotide, resulting in a missense change located in the Armadillo repeat and Armadillo-like helical domain (InterPro) . 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). The variant was absent in the control population dataset of gnomAD in 246040 control chromosomes. The variant was reported in one individual undergoing genetic testing for Lynch syndrome without strong evidence for or against causality (Yurgelun_2015). Taken together, this variant is classified as VUS.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985285 SCV001133300 uncertain significance not provided 2018-09-07 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.