Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001753467 | SCV001985724 | uncertain significance | not provided | 2021-01-25 | criteria provided, single submitter | clinical testing | Observed in individuals with breast and/or ovarian cancer, and found to segregate with disease in one family (Carvalho 2009, Azzolini 2016); Published functional studies predominantly demonstrate no damaging effect: normal transactivation activity, protein folding, and cell survival in a saturation genome editing (SGE) assay, but uncertain binding activity and specificity (Caravalho 2009, Lee 2010, Findlay 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek 2016); Also known as 5597G>T; This variant is associated with the following publications: (PMID: 30209399, 30765603, 18992264, 27062684, 28781887, 20516115) |
| Invitae | RCV001853025 | SCV002142810 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-02-28 | 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 been observed in individuals with breast and/or ovarian cancer (PMID: 27062684,18992264). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 55592). This variant is present in population databases (rs80357332, ExAC 0.001%). This sequence change replaces glutamine with histidine at codon 1826 of the BRCA1 protein (p.Gln1826His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. |
| Breast Cancer Information Core |
RCV000112669 | SCV000145534 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-03-30 | no assertion criteria provided | clinical testing | |
| Brotman Baty Institute, |
RCV000112669 | SCV001237557 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |