Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000229481 | SCV000291213 | likely pathogenic | Fanconi anemia complementation group O | 2018-07-03 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with RAD51C-related disease. ClinVar contains an entry for this variant (Variation ID: 241766). This variant is not present in population databases (ExAC no frequency). This sequence change deletes 6 nucleotides and inserts 5 nucleotides (c.145+2_145+7delinsCTAAG) in intron 1 of RAD51C. It affects a donor splice site as well as highly conserved nucleotides near the donor splice site. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. |
| Myriad Genetics, |
RCV004020887 | SCV004930457 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-01-02 | criteria provided, single submitter | clinical testing | This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function. |