ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.1274A>G (p.Asp425Gly)

dbSNP: rs752106941
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
Ambry Genetics RCV004055068 SCV002685775 uncertain significance not specified 2025-02-18 criteria provided, single submitter clinical testing The c.1274A>G (p.D425G) alteration is located in exon 12 (coding exon 12) of the PRKDC gene. This alteration results from a A to G substitution at nucleotide position 1274, causing the aspartic acid (D) at amino acid position 425 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003103569 SCV002932100 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 425 of the PRKDC protein (p.Asp425Gly). This variant is present in population databases (rs752106941, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.