Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985428 | SCV001133608 | uncertain significance | not provided | 2019-03-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003530120 | SCV004314120 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2023-07-30 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Cys1697 amino acid residue in BRCA1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 11157798, 11389159, 18465347). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 801082). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This sequence change replaces cysteine, which is neutral and slightly polar, with tryptophan, which is neutral and slightly polar, at codon 1697 of the BRCA1 protein (p.Cys1697Trp). |
Institute of Immunology and Genetics Kaiserslautern | RCV001077567 | SCV004363617 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2024-02-02 | criteria provided, single submitter | clinical testing | ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state |
Brotman Baty Institute, |
RCV001077567 | SCV001243517 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |