Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569954 | SCV000665820 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-09-15 | criteria provided, single submitter | clinical testing | The p.Q491E variant (also known as c.1471C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 1471. The glutamine at codon 491 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well 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. |
Color Diagnostics, |
RCV000569954 | SCV001353800 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-16 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000569954 | SCV003851274 | 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). |