Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000166178 | SCV000216953 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-31 | 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 | RCV000697218 | SCV000825815 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-11-29 | criteria provided, single submitter | clinical testing | |
| Mendelics | RCV000989902 | SCV001140596 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000166178 | SCV001354711 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-28 | criteria provided, single submitter | clinical testing | This missense variant replaces serine with asparagine at codon 592 of the BRCA1 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). A functional study has reported that this variant results in intermediate activity in a number of yeast homology-mediated repair associated assays and a small colony phenotype assay (PMID: 35409408). This variant has been reported in a family suspected to be affected with hereditary cancer (PMID: 31853058). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| University of Washington Department of Laboratory Medicine, |
RCV000166178 | SCV003849742 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | curation | Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673). |
| Department of Pathology and Laboratory Medicine, |
RCV001358638 | SCV001554432 | likely benign | not provided | no assertion criteria provided | clinical testing |