Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331937 | SCV004038328 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2023-08-07 | criteria provided, single submitter | clinical testing | Variant summary: The variant identified by MLPA or other technology involves the deletion of exons 6-8 in the BRCA1 gene. A presumed nomenclature of c.(301+1_302-1)_(593+1_594-1)del has been designated for the purposes of this classification. Although exact breakpoints of this deletion are not known, it is expected to result in a frameshift in the BRCA1 gene, a known mechanism of disease. The variant was absent in 21694 control chromosomes (gnomAD). To our knowledge, no occurrence of c.(301+1_302-1)_(593+1_594-1)del in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Overlapping deletions: exon 7del and exons 7-8del are classified pathogenic internally. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |