Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001015939 | SCV001176834 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-30 | criteria provided, single submitter | clinical testing | The p.A854V variant (also known as c.2561C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2561. The alanine at codon 854 is replaced by valine, an amino acid with similar properties. 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. |
Color Diagnostics, |
RCV001015939 | SCV001340805 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001350271 | SCV001544659 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV001015939 | SCV003847578 | 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 |
RCV000111889 | SCV000144473 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing |