ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1392T>C (p.His464=) (rs1057524073)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433646 SCV000534478 likely benign not specified 2016-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000550948 SCV000647171 likely benign Familial adenomatous polyposis 1 2017-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000572795 SCV000667358 likely benign Hereditary cancer-predisposing syndrome 2015-01-16 criteria provided, single submitter clinical testing
Color RCV000572795 SCV000910390 likely benign Hereditary cancer-predisposing syndrome 2018-03-27 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000433646 SCV000918440 uncertain significance not specified 2018-05-11 criteria provided, single submitter clinical testing Variant summary: APC c.1392T>C alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The available data on variant occurrences in the general population (4/245118 chrs tested in gnomAD dataset) are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1392T>C in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.

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.