Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247419 | SCV001420840 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-10-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu283Phefs*4) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800976 | SCV002046415 | likely pathogenic | not provided | 2020-11-14 | criteria provided, single submitter | clinical testing | This frameshift variant is predicted to cause the premature termination of BRCA1 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. This variant has not been reported in large, multi-ethnic general populations. Based on the available information, we predict that the variant is likely pathogenic. |