Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000472087 | SCV000549422 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-11-29 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. This variant disrupts the p.Arg1753 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 20516115, 23867111, 25066507). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399, 30765603). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 409370). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 1753 of the BRCA1 protein (p.Arg1753Ser). |
| Brotman Baty Institute, |
RCV001075941 | SCV001241600 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |