Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003486501 | SCV004241691 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-12-26 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exons 5-9 which includes the last exon in the RAD51C gene. The exact breakpoint at the distal 3' end of this variant is unknown, therefore this deletion may extend downstream of the annotated region of the gene. As it encompasses the termination codon, it is predicted to escape nonsense mediated decay (NMD). A presumed nomenclature of c.(705+1_706-1)_(*1390_?)del has been designated for the purposes of this classification. The variant was absent in 21694 control chromosomes (gnomAD structural variants dataset). c.(705+1_706-1)_(*1390_?)del has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome (examples: Schubert_2019, and Schnurbein_2013). These data indicate that the variant is likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 30426508, 24359560). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |