Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001207860 | SCV001379227 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-08-24 | 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 present in population databases (rs772226744, ExAC 0.006%). This sequence change replaces glutamine with histidine at codon 54 of the BRCA1 protein (p.Gln54His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. |
Brotman Baty Institute, |
RCV001072586 | SCV001237999 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |