ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.7046_7048del (p.Pro2349del)

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
Labcorp Genetics (formerly Invitae), Labcorp RCV005059890 SCV005700116 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing This variant, c.7046_7048del, results in the deletion of 1 amino acid(s) of the NSD1 protein (p.Pro2349del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766845666, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with NSD1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV004752476 SCV005365409 likely benign NSD1-related disorder 2024-06-16 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.