ClinVar Miner

Submissions for variant NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp)

gnomAD frequency: 0.00004  dbSNP: rs770541943
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005682622 SCV006374734 likely benign Inborn genetic diseases 2025-07-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV003232323 SCV002815152 uncertain significance Sotos syndrome 2024-04-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094453 SCV001538803 benign not provided 2025-11-23 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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.