Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000205011 | SCV000260014 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-09-10 | 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 affects 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 expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 96943). 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 glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1735 of the BRCA1 protein (p.Glu1735Asp). |
Sharing Clinical Reports Project |
RCV000083064 | SCV000115138 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-03-19 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000083064 | SCV001241926 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |