ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.1978T>C (p.Tyr660His)

dbSNP: rs1674056899
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 RCV003238890 SCV003936437 likely pathogenic not provided 2023-06-28 criteria provided, single submitter clinical testing Reported in a patient with Tatton-Brown-Rahman syndrome in published literature (Tovy et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: Li2022[Abstract], 34092059)
Fulgent Genetics, Fulgent Genetics RCV005025733 SCV005651665 likely pathogenic Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome 2024-02-06 criteria provided, single submitter clinical testing
GenomeConnect - Brain Gene Registry RCV002226414 SCV002505361 not provided Autism spectrum disorder; Tatton-Brown-Rahman overgrowth syndrome no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 01-21-2019 by Lab or GTR ID 26957. Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator John Constantino MD PhD from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/.

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.