Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000471434 | SCV000549399 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-08-27 | 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. Experimental studies have shown that this missense change does not substantially affect BRCA1 function (PMID: 30209399). 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. ClinVar contains an entry for this variant (Variation ID: 182124). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs730881465, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 74 of the BRCA1 protein (p.Gln74His). |
Ambry Genetics | RCV001014818 | SCV001175577 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800468 | SCV002046924 | uncertain significance | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001076027 | SCV001241704 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |