Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000792368 | SCV000931662 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-05-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002392751 | SCV002709811 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-10-20 | criteria provided, single submitter | clinical testing | The p.K505I variant (also known as c.1514A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1514. The lysine at codon 505 is replaced by isoleucine, an amino acid with dissimilar 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. |
University of Washington Department of Laboratory Medicine, |
RCV002392751 | SCV003851242 | 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 |
RCV000238702 | SCV000297469 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-12-20 | no assertion criteria provided | clinical testing |