Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000474239 | SCV000549366 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-05-02 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1632 of the BRCA1 protein (p.Val1632Met). 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 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: 409339). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is present in population databases (rs770193975, gnomAD 0.0009%). |
Color Diagnostics, |
RCV000774938 | SCV000909005 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000774938 | SCV002638870 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-20 | 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. |
Brotman Baty Institute, |
RCV001072799 | SCV001238246 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |