ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.361_362del (p.Cys121fs)

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
Ambry Genetics RCV003341902 SCV004051455 pathogenic Hereditary cancer-predisposing syndrome 2023-09-05 criteria provided, single submitter clinical testing The c.361_362delTG pathogenic mutation, located in coding exon 3 of the AIP gene, results from a deletion of two nucleotides at nucleotide positions 361 to 362, causing a translational frameshift with a predicted alternate stop codon (p.C121Lfs*8). 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.

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.