ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.1033G>A (p.Ala345Thr) (rs149249195)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726862 SCV000518179 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing The A345T variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed with any significant frequency in approximately 6,500 ndividuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The A345T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. However, missense variants in nearby codons have not been reported in association with ATRX-related disorders (Stenson et al., 2014) and in silico is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. GeneDx interprets A345T as a variant of unknown significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726862 SCV000703682 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
Invitae RCV000726862 SCV001005909 benign not provided 2019-01-16 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.