Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
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. |