Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001326889 | SCV001517942 | uncertain significance | Hereditary breast ovarian cancer syndrome | 2019-07-20 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with leucine at codon 1663 of the BRCA1 protein (p.Met1663Leu). The methionine residue is moderately conserved and there is a small physicochemical difference between methionine and leucine. 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 variant disrupts mRNA splicing (PMID: 25724305). This variant has been reported to have conflicting or insufficient data to determine the effect on BRCA1 protein function (PMID: 30209399, 20516115, 20378548). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 55348). This variant is not present in population databases (ExAC no frequency). |
| Breast Cancer Information Core |
RCV000112455 | SCV000145251 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2003-12-23 | no assertion criteria provided | clinical testing | |
| Sharing Clinical Reports Project |
RCV000112455 | SCV000297615 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2013-04-12 | no assertion criteria provided | clinical testing | |
| Brotman Baty Institute, |
RCV000112455 | SCV001242764 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |