ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1907A>G (p.His636Arg)

gnomAD frequency: 0.00002  dbSNP: rs909682682
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 RCV001071960 SCV001237298 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160594 SCV003880201 uncertain significance Inborn genetic diseases 2023-01-20 criteria provided, single submitter clinical testing The c.1907A>G (p.H636R) alteration is located in exon 2 (coding exon 1) of the RAG1 gene. This alteration results from a A to G substitution at nucleotide position 1907, causing the histidine (H) at amino acid position 636 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.