ClinVar Miner

Submissions for variant NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=) (rs1131691272)

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
GeneDx RCV000493935 SCV000581751 uncertain significance not provided 2017-04-26 criteria provided, single submitter clinical testing A variant of unknown significance has been identified in the NIPBL gene. The c.6243 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The c.6243 C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a nucleotide that is conserved across species. In silico analysis predicts the gain of a slightly stronger cryptic splice donor site for intron 35. Splicing variants have not been reported intron 35 in the Human Gene Mutation Database (Stenson et al., 2009). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.