ClinVar Miner

Submissions for variant NM_001364905.1(LRBA):c.6445_6446AG[1] (p.Arg2149fs) (rs1561254290)

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
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768379 SCV000898802 likely pathogenic Common variable immunodeficiency 8, with autoimmunity 2017-11-28 criteria provided, single submitter clinical testing LRBA NM_006726.4 exon 42 p.Arg2160fs (c.6480_6481del): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deletion of 2 nucleotides and creates a premature stop codon 18 amino acids downstream from this location which results in an absent or abnormal protein. Loss of function (LOF) variants have been reported in association with disease with this gene, but there is insufficent evidence for LOF as an established disease mechanism. In summary, data on this variant is suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant 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.