Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231811 | SCV000289834 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2021-09-02 | criteria provided, single submitter | clinical testing | 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 has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 193 of the BRCA1 protein (p.Lys193Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. 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. |
Color Diagnostics, |
RCV001184073 | SCV001349965 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-23 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002247679 | SCV002517002 | benign | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001184073 | SCV002651915 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-25 | criteria provided, single submitter | clinical testing | The p.K193E variant (also known as c.577A>G), located in coding exon 7 of the BRCA1 gene, results from an A to G substitution at nucleotide position 577. The lysine at codon 193 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |