Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001284294 | SCV001469999 | pathogenic | not provided | 2019-12-22 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002271638 | SCV002555626 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2022-06-03 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4781delC (p.Pro1594HisfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251398 control chromosomes. c.4781delC has been reported in the literature in an individual affected with serous ovarian cancer (Soegaard_2008). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |