ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.3290T>A (p.Leu1097Ter) (rs1562212484)

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 RCV000760428 SCV000890311 pathogenic not provided 2018-12-06 criteria provided, single submitter clinical testing The L1097X variant in the NSD1 gene has been reported previously in an individual with Sotos syndrome (Saugier-Veber et al., 2007). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The L1097X variant is not observed in large population cohorts (Lek et al., 2016). We interpret L1097X as a pathogenic 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.