ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.385G>A (p.Val129Met) (rs121908731)

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 RCV000059099 SCV000941333 pathogenic Severe combined immunodeficiency due to ADA deficiency 2019-12-23 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 129 of the ADA protein (p.Val129Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with adenosine deaminase deficiency (PMID: 10200056, 26255240, 26376800). ClinVar contains an entry for this variant (Variation ID: 68260). This variant has been reported to affect ADA protein function (PMID: 9758612). For these reasons, this variant has been classified as Pathogenic.
UniProtKB/Swiss-Prot RCV000059099 SCV000090623 not provided Severe combined immunodeficiency due to ADA deficiency no assertion provided not provided

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.