ClinVar Miner

Submissions for variant NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)

dbSNP: rs1555461788
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
Counsyl RCV000662619 SCV000785282 likely pathogenic Familial cancer of breast 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV000662619 SCV000820451 pathogenic Familial cancer of breast 2018-04-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu159*) in the PALB2 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 not been reported in the literature in individuals with PALB2-related disease. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575).
Myriad Genetics, Inc. RCV000662619 SCV004019214 pathogenic Familial cancer of breast 2023-03-30 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.

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.