ClinVar Miner

Submissions for variant NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)

gnomAD frequency: 0.00001  dbSNP: rs797044792
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180509 SCV000232966 uncertain significance not provided 2014-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001241409 SCV001414423 likely benign Alpha thalassemia-X-linked intellectual disability syndrome 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000180509 SCV001757095 uncertain significance not provided 2020-01-15 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Observed in hemizygous state in a clinically unaffected adult relative of an individual referred for genetic testing at GeneDx
Ambry Genetics RCV002433783 SCV002746364 uncertain significance Inborn genetic diseases 2020-02-21 criteria provided, single submitter clinical testing The p.E928Q variant (also known as c.2782G>C), located in coding exon 9 of the ATRX gene, results from a G to C substitution at nucleotide position 2782. The glutamic acid at codon 928 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and glutamine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002485181 SCV002790323 uncertain significance Acquired hemoglobin H disease; Alpha thalassemia-X-linked intellectual disability syndrome; Intellectual disability-hypotonic facies syndrome, X-linked, 1 2021-08-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001241409 SCV002087322 uncertain significance Alpha thalassemia-X-linked intellectual disability syndrome 2020-08-06 no assertion criteria provided 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.