ClinVar Miner

Submissions for variant NM_000022.4(ADA):c.311C>T (p.Pro104Leu) (rs1452483770)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685056 SCV000812528 likely pathogenic Severe combined immunodeficiency due to ADA deficiency 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 104 of the ADA protein (p.Pro104Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in two individuals affected with ADA-associated immunodeficiency (PMID: 7691348, 9758612). Experimental studies have shown that this missense change results in loss of ADA enzyme activity in vitro (PMID: 9758612, 14499267). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.