ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4620_4625TGAAGA[1] (p.1540_1541DE[1]) (rs797045406)

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
Genetic Services Laboratory, University of Chicago RCV000193225 SCV000246760 pathogenic Alpha-thalassemia/mental retardation syndrome 2016-12-21 criteria provided, single submitter clinical testing
Invitae RCV000798266 SCV000937872 uncertain significance ATR-X syndrome 2018-08-08 criteria provided, single submitter clinical testing This variant, c.4626_4631delTGAAGA, results in the deletion of 2 amino acids of the ATRX protein (p.Asp1542_Glu1543del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with moderate mental retardation, expressive language delay, HbH inclusions, and hypospodia (PMID: 11449489). This variant is also known as c.4832_4837del; p.1540_1541delDE in the literature. ClinVar contains an entry for this variant (Variation ID: 210497). Experimental studies have shown that this deletion results in lower mRNA and protein levels (PMID: 21505078). 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.

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.