Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766566 | SCV000209941 | uncertain significance | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | Observed in individuals with unspecified cancer history who underwent multi-gene inherited cancer panel testing (Li et al., 2020); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Also known as 2670G>A; This variant is associated with the following publications: (PMID: 32377563, 31853058, 15343273, 29884841) |
ARUP Laboratories, |
RCV000159874 | SCV000602701 | uncertain significance | not specified | 2016-11-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575058 | SCV000660996 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-26 | criteria provided, single submitter | clinical testing | The p.E851K variant (also known as c.2551G>A), located in coding exon 9 of the BRCA1 gene, results from a G to A substitution at nucleotide position 2551. The glutamic acid at codon 851 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Color Diagnostics, |
RCV000575058 | SCV000688389 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-04 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000077110 | SCV000784873 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000800458 | SCV000940174 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 91593). This missense change has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 21520333). This variant is present in population databases (rs398122662, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 851 of the BRCA1 protein (p.Glu851Lys). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. 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. |
University of Washington Department of Laboratory Medicine, |
RCV000575058 | SCV003847586 | 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). |
Sharing Clinical Reports Project |
RCV000077110 | SCV000108907 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-05-01 | no assertion criteria provided | clinical testing |