ClinVar Miner

Submissions for variant NM_003579.4(RAD54L):c.1298del (p.Pro433fs)

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
Neuberg Centre For Genomic Medicine, NCGM RCV003448727 SCV004176382 likely pathogenic Familial cancer of breast 2023-02-14 criteria provided, single submitter clinical testing The frameshift c.1298del (p.Pro433ArgfsTer10) variant in the RAD54L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency (0.003%) in the gnomAD Exomes and novel in 1000. This variant causes a frameshift starting with codon Proline 433, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 10 of the new reading frame, denoted p.Pro433ArgfsTer10. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely 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.