ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1102_1103del (p.Val368fs)

dbSNP: rs1554080016
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
Invitae RCV003337327 SCV000768121 pathogenic Familial adenomatous polyposis 1 2023-03-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 537469). This premature translational stop signal has been observed in individual(s) with adenomatous polyposis and colorectal cancer (PMID: 17411426, 17489848). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val368Ilefs*9) in 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 (PMID: 17963004, 20685668).
Ambry Genetics RCV001017313 SCV001178380 pathogenic Hereditary cancer-predisposing syndrome 2019-05-13 criteria provided, single submitter clinical testing The c.1102_1103delGT pathogenic mutation, located in coding exon 9 of the APC gene, results from a deletion of two nucleotides at nucleotide positions 1102 to 1103, causing a translational frameshift with a predicted alternate stop codon (p.V368Ifs*9). This mutation has previously been reported in multiple individuals with attenuated familial adenomatous polyposis (AFAP) (Stekrova J et al. BMC Med Genet. 2007 8:16; Nielsen et al. Clin Genet. 2007 71:427–433). In addition to the 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. RCV003337327 SCV004045588 pathogenic Familial adenomatous polyposis 1 2023-04-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.