Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000549731 | SCV000635958 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-10-15 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 1415 of the BRCA1 protein (p.Glu1415Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. |
Color Diagnostics, |
RCV000579534 | SCV000683166 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-08 | criteria provided, single submitter | clinical testing |