ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.595_596delinsTT (p.Ala199Leu)

dbSNP: rs1060502118
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
Invitae RCV000462206 SCV000548546 uncertain significance Acute myeloid leukemia 2023-07-12 criteria provided, single submitter clinical testing This variant is also known as 744-745GC>TT. This sequence change replaces alanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 199 of the CEBPA protein (p.Ala199Leu). This variant is present in population databases (no rsID available, gnomAD 0.004%). This missense change has been observed in individual(s) with acute myeloid leukemia (PMID: 18768433). ClinVar contains an entry for this variant (Variation ID: 408745). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Baylor Genetics RCV000462206 SCV004212552 uncertain significance Acute myeloid leukemia 2023-09-15 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.