Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000507668 | SCV000600321 | uncertain significance | not specified | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000637375 | SCV000758831 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-07-08 | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 30209399). 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 expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 438922). This missense change has been observed in individual(s) with breast cancer (PMID: 33278427). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 11 of the BRCA1 protein (p.Val11Leu). |
Color Diagnostics, |
RCV001176784 | SCV001340838 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001072347 | SCV001237711 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro | ||
BRCAlab, |
RCV001072347 | SCV004244208 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |