ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs)

dbSNP: rs1064794051
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483565 SCV000567678 pathogenic not provided 2015-08-14 criteria provided, single submitter clinical testing The c.2760_2763delTAAG deletion in the NSD1 gene has been reported previously in association with Sotos syndrome (Saugier-Veber et al., 2007; Rio et al., 2003). The deletion causes a frameshift starting with codon Serine 920, changes this amino acid to a Arginine residue and creates a premature Stop codon at position 7 of the new reading frame, denoted p.Ser920ArgfsX7. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret c.2760_2763delTAAG as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001221224 SCV001393252 pathogenic Beckwith-Wiedemann syndrome 2019-05-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser920Argfs*7) in the NSD1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with Sotos syndrome (PMID: 12807965, 17565729). ClinVar contains an entry for this variant (Variation ID: 419698). Loss-of-function variants in NSD1 are known to be pathogenic (PMID: 12464997, 14571271, 15942875, 16247291). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV003231503 SCV002054919 pathogenic Sotos syndrome 2021-07-15 criteria provided, single submitter clinical testing

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.