ClinVar Miner

Submissions for variant NM_022552.5(DNMT3A):c.130_131dup (p.Ala45fs)

dbSNP: rs1553427894
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486884 SCV000570424 likely pathogenic not provided 2016-05-19 criteria provided, single submitter clinical testing The c.130_131dupAC variant in the DNMT3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.130_131dupAC variant causes a frameshift starting with codon Alanine 45, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 28 of the new reading frame, denoted p.Ala45ArgfsX28. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.130_131dupAC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.130_131dupAC variant is a strong candidate for a pathogenic variant, however the possibility this is a benign variant cannot be excluded.

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.