ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.970del (p.Arg324fs)

dbSNP: rs2065325961
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 RCV001066596 SCV001231611 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2019-11-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ADA are known to be pathogenic (PMID: 26255240, 26376800). This variant has been observed in individual(s) with clinical features of adenosine deaminase deficiency (PMID: 26376800). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg324Glyfs*2) in the ADA gene. It is expected to result in an absent or disrupted protein product.
Genome-Nilou Lab RCV001066596 SCV001977460 pathogenic Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 2021-08-10 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.