Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475234 | SCV000549269 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2018-06-21 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 409303). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with isoleucine at codon 1784 of the BRCA1 protein (p.Val1784Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. |
Counsyl | RCV000662930 | SCV000785883 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV000662930 | SCV001238606 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |