Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572214 | SCV000660964 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-03-29 | criteria provided, single submitter | clinical testing | The p.Q534R variant (also known as c.1601A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1601. The glutamine at codon 534 is replaced by arginine, an amino acid with highly similar properties. This alteration has been reported in a Brazilian cohort of patients considered to be at high risk for hereditary breast and ovarian cancer (HBOC) syndrome; it was identified in one patient who was diagnosed with breast cancer at age 51 who also had five family members diagnosed with breast cancer (Fernandes GC et al. Oncotarget. 2016 Dec;7:80465-80481). This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Mendelics | RCV000709486 | SCV000839283 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000572214 | SCV000909374 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000111652 | SCV001140599 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000709486 | SCV002416494 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000572214 | SCV003851182 | 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 |
RCV000111652 | SCV000144139 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |