Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024267 | SCV001186251 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-02-15 | criteria provided, single submitter | clinical testing | The p.D1851E variant (also known as c.5553C>A), located in coding exon 22 of the BRCA1 gene, results from a C to A substitution at nucleotide position 5553. The aspartic acid at codon 1851 is replaced by glutamic acid, an amino acid with highly similar properties. Functional studies have demonstrated that this alteration does not impact protein function (Findlay GM et al. Nature 2018 10;562(7726):217-222; Lee MS et al. Cancer Res. 2010 Jun;70(12):4880-90; Karchin R et al. PLoS Comput. Biol. 2007 Feb;3(2):e26). 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. |
Breast Cancer Information Core |
RCV000112701 | SCV000145574 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-12-23 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112701 | SCV001243554 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |