Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164818 | SCV000215501 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-23 | criteria provided, single submitter | clinical testing | The p.C554G variant (also known as c.1660T>G), located in coding exon 9 of the BRCA2 gene, results from a T to G substitution at nucleotide position 1660. The cysteine at codon 554 is replaced by glycine, an amino acid with highly dissimilar properties. This amino acid position is 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759581 | SCV000888989 | uncertain significance | not provided | 2019-01-16 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000164818 | SCV003851554 | 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). |