Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000704104 | SCV000833039 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-05-22 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. ClinVar contains an entry for this variant (Variation ID: 580534). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1840 of the BRCA1 protein (p.Asp1840Asn). |
| Gene |
RCV003126915 | SCV003803167 | uncertain significance | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Also known as 5637G>A; This variant is associated with the following publications: (PMID: 25348405, 30209399) |
| Brotman Baty Institute, |
RCV001076346 | SCV001242077 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |