ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) (rs1057520339)

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
GeneDx RCV000436276 SCV000513987 pathogenic not provided 2017-12-26 criteria provided, single submitter clinical testing The R788X nonsense variant in the NSD1 gene has been reported previously in association with Sotos syndrome (Tatton-Brown et al., 2005; Saugier-Veber et al., 2007; Pohjola et al., 2012). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R788X variant is not observed in large population cohorts (Lek et al., 2016).
Invitae RCV000460451 SCV000546559 pathogenic Beckwith-Wiedemann syndrome 2016-05-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 788 (p.Arg788*) of the NSD1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in NSD1 are known to be pathogenic (PMID: 12807965, 15942875, 17565729). This particular variant has been observed in several individuals with Sotos syndrome (PMID: 15942875, 17565729, 23190751). 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.