Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000803672 | SCV000943554 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-10-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 1762 of the BRCA1 protein (p.Arg1762Thr). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with breast cancer (PMID: 31907386). ClinVar contains an entry for this variant (Variation ID: 648860). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is not expected to disrupt BRCA1 function. 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. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800889 | SCV002046893 | uncertain significance | not provided | 2022-10-21 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000004 (1/251234 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual with breast cancer (PMID: 31907386 (2020)). One study showed this variant apparently retained functional activity in a large-scale study using a haploid cell line (PMID: 30209399 (2018)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant. |
| Brotman Baty Institute, |
RCV001076754 | SCV001242572 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |