Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066378 | SCV001231385 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-03-06 | criteria provided, single submitter | clinical testing | This variant has been observed in an individual affected with breast cancer (PMID: 28664506). This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 1771 of the BRCA1 protein (p.Pro1771Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ambry Genetics | RCV002348461 | SCV002646774 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-21 | 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. |
Brotman Baty Institute, |
RCV001077176 | SCV001243061 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |