Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001202365 | SCV001373475 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 868049). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1799 of the BRCA1 protein (p.Thr1799Ala). |
| Brotman Baty Institute, |
RCV001076867 | SCV001242702 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |