ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.2603C>T (p.Ala868Val) (rs193922462)

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030391 SCV000053060 likely pathogenic Severe combined immunodeficiency disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Invitae RCV000803712 SCV000943595 uncertain significance Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-10-18 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 868 of the RAG1 protein (p.Ala868Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs193922462, ExAC 0.003%). This variant has not been reported in the literature in individuals with RAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 36712). This variant has been reported not to substantially affect RAG1 protein function (PMID: 24290284). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.