Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003530017 | SCV004308114 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-11-25 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1684 of the BRCA1 protein (p.Thr1684Pro). 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: 252883). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects 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. |
| Sharing Clinical Reports Project |
RCV000238607 | SCV000297486 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-11-02 | no assertion criteria provided | clinical testing | |
| Brotman Baty Institute, |
RCV000238607 | SCV001243428 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |