ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.2773del (p.Val925fs)

dbSNP: rs1597082860
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000811740 SCV000952023 pathogenic Familial cancer of breast 2018-11-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). This variant has not been reported in the literature in individuals with PALB2-related disease. This sequence change creates a premature translational stop signal (p.Val925Cysfs*10) in the PALB2 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV000811740 SCV004187552 pathogenic Familial cancer of breast 2023-09-13 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.