Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165960 | SCV000216717 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-25 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000508280 | SCV000600332 | uncertain significance | not specified | 2017-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001522503 | SCV001732064 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | |
St. |
RCV000112088 | SCV002584703 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-10-05 | criteria provided, single submitter | clinical testing | The BRCA1 c.3407C>G (p.Pro1136Arg) missense change has a maximum subpopulation frequency of 0.064% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. This variant is absent in the FLOSSIES database which contains genetic variants from women older than 70 years of age who have never had cancer (https://whi.color.com/). To our knowledge, this variant has not been reported in individuals with hereditary breast and ovarian cancer or Fanconi anemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance. |
University of Washington Department of Laboratory Medicine, |
RCV000165960 | SCV003850412 | 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). |
Breast Cancer Information Core |
RCV000112088 | SCV000144754 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-12-30 | no assertion criteria provided | clinical testing |