Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000212920 | SCV000149854 | uncertain significance | not provided | 2014-01-03 | criteria provided, single submitter | clinical testing | RAD50 has been only recently described in association with cancer predisposition and the risks are not well understood. This variant is denoted RAD50 c.2651G>A at the cDNA level and p.Arg884His (R884H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common, benign variant in these populations. This variant is a conservative substitution of one positive, polar amino acid for another, altering a position that is moderately conserved throughout evolution and is within a coil domain. In silico analyses are inconsistent with regard to the effect this variant may have on protein structure and function. On a molecular level, the impact of this missense variant on protein structure and function is not known and thus we consider this to be a variant of uncertain significance. Furthermore, based on the currently available information, cancer risks associated with this variant, and the RAD50 gene, remain unclear. |
| Ambry Genetics | RCV000115945 | SCV000214906 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-10 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
| Invitae | RCV000115945 | SCV000262046 | benign | Hereditary cancer-predisposing syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000212920 | SCV004220088 | likely benign | not provided | 2023-03-10 | criteria provided, single submitter | clinical testing |