Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000824288 | SCV000965181 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2023-02-13 | criteria provided, single submitter | clinical testing | 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. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 665905). This missense change has been observed in individual(s) with breast cancer (PMID: 32803532). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1679 of the BRCA1 protein (p.Leu1679Val). |
Breast Center, |
RCV000824288 | SCV001430333 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2020-05-01 | criteria provided, single submitter | clinical testing | |
Brotman Baty Institute, |
RCV001076268 | SCV001241987 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |