Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000562033 | SCV000667164 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-08-24 | criteria provided, single submitter | clinical testing | The p.V116L variant (also known as c.346G>T) is located in coding exon 5 of the RAD51D gene. The valine at codon 116 is replaced by leucine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 5. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 175000 alleles tested) in our clinical cohort. This amino acid position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of (but not abolish) the native splice acceptor site; however, direct evidence is unavailable. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004569166 | SCV005054034 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 4 | 2023-12-17 | criteria provided, single submitter | clinical testing |