ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5912C>A (p.Ser1971Tyr) (rs754691867)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759435 SCV000888752 uncertain significance not provided 2018-02-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780848 SCV000918458 uncertain significance not specified 2017-10-26 criteria provided, single submitter clinical testing Variant summary: The APC c.5912C>A (p.Ser1971Tyr) variant located in the Adenomatous polyposis coli protein repeat domain (via InterPro) involves the alteration of a conserved nucleotide and 4/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). However, these predictions have yet to be functionally assessed. This variant is absent in 276666 control chromosomes (gnomAD). A publication, Christie_2013, cites the variant in 1 CrC pt with limited information. In addition, the variant of interest has not, to our knowledge, been cited by reputable databases and/or clinical diagnostic laboratories. Therefore, until additional information becomes available (ie, clinical and/or functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."

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.