Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000703488 | SCV000832391 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 1710 of the BRCA1 protein (p.Gly1710Glu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 35264596). ClinVar contains an entry for this variant (Variation ID: 91638). Invitae Evidence Modeling incorporating data from in vitro 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). 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 | RCV000703488 | SCV000839215 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000771310 | SCV000903566 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-21 | criteria provided, single submitter | clinical testing | This missense variant replaces glycine with glutamic acid at codon 1710 of the BRCA1 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). However, a functional study reported that this variant does not impact BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV000771310 | SCV002646544 | likely benign | Hereditary cancer-predisposing syndrome | 2022-07-21 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
| Baylor Genetics | RCV000077155 | SCV004215057 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-18 | criteria provided, single submitter | clinical testing | |
| Sharing Clinical Reports Project |
RCV000077155 | SCV000108952 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-03-03 | no assertion criteria provided | clinical testing | |
| Brotman Baty Institute, |
RCV000077155 | SCV001244146 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |