Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001374272 | SCV001571076 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-06-11 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with glutamic acid at codon 19 of the BRCA1 protein (p.Gln19Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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. ClinVar contains an entry for this variant (Variation ID: 867726). This variant is not present in population databases (ExAC no frequency). |
Brotman Baty Institute, |
RCV001076480 | SCV001242243 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |