Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000233568 | SCV000289821 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2015-11-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. This sequence change replaces leucine with arginine at codon 1705 of the BRCA1 protein (p.Leu1705Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). |
Brotman Baty Institute, |
RCV001076407 | SCV001242150 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |