ClinVar Miner

Submissions for variant NM_001079.3(ZAP70):c.1082+8C>T (rs55933862)

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768141 SCV000899096 uncertain significance Severe combined immunodeficiency, atypical; Autoimmune disease, multisystem, infantile-onset, 2 2018-09-28 criteria provided, single submitter clinical testing ZAP70 NM_001079.3 exon 9 c.1082+8C>T: This variant has not been reported in the literature but is present in 0.8% (201/23944) of African alleles, including 1 homozygote, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs55933862). This variant is present in ClinVar (Variation ID:471240). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Although this variant occurs in the splice region, computational prediction tools do not suggest that it may alter splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000542141 SCV000649526 benign Severe combined immunodeficiency, atypical 2017-08-17 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.