ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.7439T>G (p.Ile2480Ser)

gnomAD frequency: 0.00001  dbSNP: rs909325532
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 RCV001369810 SCV001566259 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-10-10 criteria provided, single submitter clinical testing 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with PRKDC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with serine at codon 2480 of the PRKDC protein (p.Ile2480Ser). The isoleucine residue is highly conserved and there is a large physicochemical difference between isoleucine and serine.

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.