Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216237 | SCV000274320 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-04 | 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. |
Invitae | RCV000706715 | SCV000835782 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-12-31 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 4 of the BRCA1 protein (p.Ser4Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 27616075). ClinVar contains an entry for this variant (Variation ID: 230684). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function with a negative predictive value of 95%. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. |
Ce |
RCV003221867 | SCV003917931 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | BRCA1: PM2, BP1, BP4, BS3:Supporting |
Brotman Baty Institute, |
RCV001072306 | SCV001237664 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |