Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001023952 | SCV001185896 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-28 | criteria provided, single submitter | clinical testing | The p.E1781K variant (also known as c.5341G>A), located in coding exon 20 of the BRCA1 gene, results from a G to A substitution at nucleotide position 5341. The glutamic acid at codon 1781 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. |
| Labcorp Genetics |
RCV001051176 | SCV001215318 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-09-10 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant does not substantially affect BRCA1 protein function (PMID: 30209399). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 825665). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1781 of the BRCA1 protein (p.Glu1781Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. 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. |
| Fulgent Genetics, |
RCV002481833 | SCV002788629 | uncertain significance | Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S | 2021-07-14 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001076831 | SCV005058224 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2024-03-17 | criteria provided, single submitter | clinical testing | |
| Brotman Baty Institute, |
RCV001076831 | SCV001242660 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |