ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.5758T>A (p.Cys1920Ser)

dbSNP: rs1554204122
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
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV003232066 SCV000782186 likely pathogenic Sotos syndrome 2016-11-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV003232066 SCV001425399 likely pathogenic Sotos syndrome 2020-04-10 criteria provided, single submitter clinical testing This NSD1 variant is absent from a large population dataset. A single submitter in ClinVar classifies this variant as likely pathogenic. Three bioinformatic tools queried predict that this substitution would be damaging, and the cysteine residue at this position is evolutionarily conserved across all species assessed. As this variant is apparently de novo and consistent with this patient's clinical findings, we consider it to be likely 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.