ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.4686del (p.Phe1562fs)

dbSNP: rs1554023967
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000559923 SCV000657497 pathogenic Cornelia de Lange syndrome 1 2016-06-24 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 23 of the NIPBL mRNA (c.4686delT), causing a frameshift at codon 1562. This creates a premature translational stop signal (p.Phe1562Leufs*27) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in NIPBL are known to be pathogenic (PMID: 24038889). For these reasons, this variant has been classified as Pathogenic.

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.