ClinVar Miner

Submissions for variant NM_000038.6(APC):c.697C>T (p.Gln233Ter)

dbSNP: rs1554074772
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
Invitae RCV003742775 SCV000647683 pathogenic Familial adenomatous polyposis 1 2017-04-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 233 (p.Gln233*) of the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature co-segregating with disease in a large family affected with familial adenomatous polyposis (PMID: 7853377, as well as in several unrelated affected individuals (PMID: 20564245, 11559652). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000563146 SCV000676348 pathogenic Hereditary cancer-predisposing syndrome 2016-09-16 criteria provided, single submitter clinical testing The p.Q233* pathogenic mutation (also known as c.697C>T), located in coding exon 6 of the APC gene, results from a C to T substitution at nucleotide position 697. This changes the amino acid from a glutamine to a stop codon within coding exon 6. This mutation has been identified in multiple FAP patients in the literature (Smith-Ravin J et al. J. Med. Genet., 1994 Nov;31:888-90; Wallis YL et al. J. Med. Genet., 1999 Jan;36:14-20). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV002527857 SCV004045665 pathogenic Familial adenomatous polyposis 1 2023-04-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
GenomeConnect - Invitae Patient Insights Network RCV003330781 SCV004037507 not provided APC-Associated Polyposis Disorders no assertion provided phenotyping only Variant classified as Pathogenic and reported on 04-24-2017 by Invitae. Variant noted to be possible mosaic. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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.