ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.723_725delinsC (p.Gly242fs)

dbSNP: rs886041580
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
GeneDx RCV000299735 SCV000330265 pathogenic not provided 2016-04-29 criteria provided, single submitter clinical testing The c.723_725delAGGinsC variant in the CDC73 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant causes a frameshift starting with codon Glycine 242, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 24 of the new reading frame, denoted p.Gly242LysfsX24. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic.

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.