Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000563405 | SCV000661097 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000563405 | SCV000909006 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-06 | criteria provided, single submitter | clinical testing | |
Breast Center, |
RCV001254344 | SCV001430331 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001254344 | SCV001505235 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-09-02 | criteria provided, single submitter | clinical testing | Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 12496477, 30209399, 30765603). 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. ClinVar contains an entry for this variant (Variation ID: 55309). This missense change has been observed in individual(s) with breast cancer (PMID: 18627636, 22486713, 32803532). This variant is present in population databases (rs273901742, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 1631 of the BRCA1 protein (p.Ser1631Asn). 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 |
RCV000112418 | SCV000145204 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-09-18 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112418 | SCV001243807 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |