Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192552 | SCV001360773 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2019-11-27 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.2235dupA (p.Asp746ArgfsX16) 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 (eg. c.2241delC (p.Asp749fsX4), c.2269delG (p.Val757PhefsX8)). The variant was absent in 251160 control chromosomes (gnomAD). To our knowledge, no occurrence of c.2235dupA in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001800965 | SCV002046302 | likely pathogenic | not provided | 2020-10-16 | 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. |
| Baylor Genetics | RCV003473728 | SCV004211780 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-10-02 | criteria provided, single submitter | clinical testing |