ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del)

dbSNP: rs781862926
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
GeneDx RCV000497967 SCV000589893 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing The c.2461_2466delTTAGAA variant in the ATRX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2461_2466delTTAGAA variant results in an in-frame deletion of two amino acids which are conserved through mammals, Leucine 821 and Glutamate 822, denoted p.Leu821_Glu822del. The c.2461_2466delTTAGAA variant is observed in 3/8215 (0.03%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). We interpret c.2461_2466delTTAGAA as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000793030 SCV000932365 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2024-10-24 criteria provided, single submitter clinical testing This variant, c.2461_2466del, results in the deletion of 2 amino acid(s) of the ATRX protein (p.Leu821_Glu822del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs781862926, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with ATRX-related conditions. ClinVar contains an entry for this variant (Variation ID: 432200). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.