ClinVar Miner

Submissions for variant NM_024675.3(PALB2):c.395del (p.Val132fs) (rs180177085)

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 RCV000700247 SCV000828995 pathogenic Familial cancer of breast 2018-04-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val132Alafs*45) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs180177085, ExAC 0.003%). This variant has been reported in an individual affected with Fanconi anemia (PMID: 17200671). ClinVar contains an entry for this variant (Variation ID: 126748). Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001021525 SCV001183152 pathogenic Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Leiden Open Variation Database RCV001030150 SCV001192974 pathogenic Fanconi anemia, complementation group N 2019-05-13 no assertion criteria provided curation Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitters to LOVD: Arleen D. Auerbach, LOVD-team, but with Curator vacancy, Marc Tischkowitz.

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.