ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)

dbSNP: rs587784042
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
Genetic Services Laboratory, University of Chicago RCV000146724 SCV000194042 pathogenic Cornelia de Lange syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003415976 SCV004109088 uncertain significance NIPBL-related condition 2023-05-02 criteria provided, single submitter clinical testing The NIPBL c.737A>G variant is predicted to result in the amino acid substitution p.Asp246Gly. This variant has been previously reported as a de novo variant in an individual with Cornelia de Lange syndrome (Yan et al. 2006. PubMed ID: 16770807; Braunholz et al. 2012. PubMed ID: 21934712). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.