ClinVar Miner

Submissions for variant NM_006904.7(PRKDC):c.2297C>G (p.Ala766Gly)

dbSNP: rs2090171039
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 RCV003307799 SCV003998170 uncertain significance Inborn genetic diseases 2023-06-09 criteria provided, single submitter clinical testing The p.A766G variant (also known as c.2297C>G), located in coding exon 21 of the PRKDC gene, results from a C to G substitution at nucleotide position 2297. The alanine at codon 766 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Department of Pediatrics, Samsung Medical Center, Samsung Medical Center RCV001252846 SCV001163989 uncertain significance Microcephaly no assertion criteria provided research

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.