ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.655G>C (p.Val219Leu)

dbSNP: rs1247432451
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000796500 SCV000936018 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 219 of the PRKDC protein (p.Val219Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PRKDC-related conditions. ClinVar contains an entry for this variant (Variation ID: 642943). 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.
Baylor Genetics RCV000796500 SCV001525289 uncertain significance Severe combined immunodeficiency due to DNA-PKcs deficiency 2020-01-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV004027567 SCV003624139 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The c.655G>C (p.V219L) alteration is located in exon 7 (coding exon 7) of the PRKDC gene. This alteration results from a G to C substitution at nucleotide position 655, causing the valine (V) at amino acid position 219 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693269 SCV005195938 uncertain significance not provided criteria provided, single submitter not provided

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.