ClinVar Miner

Submissions for variant NM_000038.6(APC):c.643C>T (p.Gln215Ter) (rs137854577)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000202265 SCV000292709 pathogenic not provided 2016-11-14 criteria provided, single submitter clinical testing This variant is denoted APC c.643C>T at the cDNA level and p.Gln215Ter (Q215X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with polyposis and brain cancer (Miyoshi 1992, Hamilton 1995) and is considered pathogenic.
Ambry Genetics RCV000491571 SCV000579931 pathogenic Hereditary cancer-predisposing syndrome 2016-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507194 SCV000602514 pathogenic not specified 2016-09-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202265 SCV000805453 pathogenic not provided 2015-07-09 criteria provided, single submitter clinical testing
Invitae RCV000000853 SCV000946143 pathogenic Familial adenomatous polyposis 1 2018-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln215*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with familial adenomatous polyposis, colorectal cancer or brain cancer (PMID: 1316610, 28944238, 7661930). This variant is also known as c.673C>T, p.Gln225* in the literature. ClinVar contains an entry for this variant (Variation ID: 814). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000853 SCV000021003 pathogenic Familial adenomatous polyposis 1 2013-04-04 no assertion criteria provided literature only
OMIM RCV000000854 SCV000021004 pathogenic Brain tumor-polyposis syndrome 2 2013-04-04 no assertion criteria provided literature only
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202265 SCV000257023 pathogenic not provided no assertion criteria provided research

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.