Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University of Washington Department of Laboratory Medicine, |
RCV003157376 | SCV003846260 | 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). |
Invitae | RCV003644883 | SCV004517368 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1268 of the BRCA1 protein (p.Asn1268Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with BRCA1-related conditions (PMID: 18627636). This variant is also known as 3922A>G. ClinVar contains an entry for this variant (Variation ID: 55011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Breast Cancer Information Core |
RCV000112190 | SCV000144885 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-09-18 | no assertion criteria provided | clinical testing |