Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016204 | SCV001177128 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-14 | criteria provided, single submitter | clinical testing | The p.A883V variant (also known as c.2648C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2648. The alanine at codon 883 is replaced by valine, an amino acid with similar properties. This amino acid position is not well 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. |
University of Washington Department of Laboratory Medicine, |
RCV001016204 | SCV003851009 | 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 |
RCV000083028 | SCV000115102 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-03-04 | no assertion criteria provided | clinical testing |