ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2098del (p.Asp700fs)

dbSNP: rs1060503305
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002523377 SCV000552595 pathogenic Familial adenomatous polyposis 1 2016-07-10 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in APC are known to be pathogenic (PMID: 20685668, 17963004). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2098delG), causing a frameshift at codon 700. This creates a premature translational stop signal (p.Asp700Thrfs*18) and is expected to result in an absent or disrupted protein product.

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.