Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002389939 | SCV002702326 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-11-08 | criteria provided, single submitter | clinical testing | The p.N500K variant (also known as c.1500T>G), located in coding exon 9 of the BRCA1 gene, results from a T to G substitution at nucleotide position 1500. The asparagine at codon 500 is replaced by lysine, an amino acid with 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. |
University of Washington Department of Laboratory Medicine, |
RCV002389939 | SCV003851254 | 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). |