ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1612G>T (p.Glu538Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003337414 SCV004044765 pathogenic Familial adenomatous polyposis 1 2023-05-02 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.
Ambry Genetics RCV004067537 SCV005016860 pathogenic Hereditary cancer-predisposing syndrome 2023-09-29 criteria provided, single submitter clinical testing The p.E538* pathogenic mutation (also known as c.1612G>T), located in coding exon 12 of the APC gene, results from a G to T substitution at nucleotide position 1612. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. This alteration has been observed in at least one individual with a personal and/or family history that is consistent with APC-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Laboratory for Genotyping Development, RIKEN RCV003164556 SCV002758047 pathogenic Gastric cancer 2021-07-01 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.