Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001854356 | SCV002166702 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2022-09-01 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function. ClinVar contains an entry for this variant (Variation ID: 91633). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1530 of the BRCA1 protein (p.Lys1530Thr). |
Ambry Genetics | RCV002336229 | SCV002637044 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-07-18 | criteria provided, single submitter | clinical testing | The p.K1530T variant (also known as c.4589A>C), located in coding exon 13 of the BRCA1 gene, results from an A to C substitution at nucleotide position 4589. The lysine at codon 1530 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Sharing Clinical Reports Project |
RCV000077150 | SCV000108947 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-11-09 | no assertion criteria provided | clinical testing |