Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000222285 | SCV000276995 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-20 | 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, |
RCV000222285 | SCV000908980 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000814710 | SCV000955130 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1820 of the BRCA1 protein (p.Gly1820Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 91650). 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, 30257991). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |
| Mendelics | RCV000077167 | SCV001140465 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| MGZ Medical Genetics Center | RCV003607233 | SCV004543880 | uncertain significance | Familial cancer of breast | 2024-02-09 | criteria provided, single submitter | clinical testing | ACMG codes applied following ENIGMA VCEP rules: PP3, PS1_MOD, PM2_SUP, BS3, BP4 |
| Sharing Clinical Reports Project |
RCV000077167 | SCV000108964 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2012-08-30 | no assertion criteria provided | clinical testing | |
| Brotman Baty Institute, |
RCV000077167 | SCV001243915 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |