Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824522 | SCV000965422 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-03-14 | 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. Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 666101). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 13 of the BRCA1 protein (p.Asn13Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399). |
Brotman Baty Institute, |
RCV001077672 | SCV001243634 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |