Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067559 | SCV001232626 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-12-11 | 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. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with alanine at codon 1840 of the BRCA1 protein (p.Asp1840Ala). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and alanine. |
Brotman Baty Institute, |
RCV001076348 | SCV001242079 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |