Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000048926 | SCV000076939 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-09-24 | 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: 20516115, 30209399, 30765603). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1773 of the BRCA1 protein (p.Thr1773Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 30287823, 31159747). ClinVar contains an entry for this variant (Variation ID: 55522). 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. |
Ambry Genetics | RCV000509679 | SCV000607846 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-30 | 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. |
Gene |
RCV000509679 | SCV000821929 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000509679 | SCV000908984 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-06-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001770069 | SCV001992459 | uncertain significance | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with breast cancer and in healthy controls (Momozawa 2018); Also known as 5437C>T; This variant is associated with the following publications: (PMID: 30209399, 31159747, 20516115, 30287823, 28781887, 30765603) |
Center for Genomic Medicine, |
RCV000496809 | SCV004242799 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000077614 | SCV000109417 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-05-22 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077614 | SCV000145450 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-11-25 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496809 | SCV000587491 | uncertain significance | not specified | 2014-01-31 | no assertion criteria provided | research | |
Brotman Baty Institute, |
RCV000077614 | SCV001238518 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |