Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193195 | SCV001361891 | uncertain significance | not specified | 2019-10-07 | criteria provided, single submitter | clinical testing | Variant summary: BRCA1 c.4097-11T>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 241972 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.4097-11T>G 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. A different nucleotide change at the same location (BRCA1:c.4097-11T>C, ClinVar ID 125673) has been reviewed as benign by an expert panel (ENIGMA) with multiple clinical lab submitters reporting a likely benign classification. Based on the evidence outlined above, the c.4097-11T>G variant in BRCA1 was classified as uncertain significance. |
| Invitae | RCV001482383 | SCV001686750 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-31 | criteria provided, single submitter | clinical testing | |
| Sema4, |
RCV002259054 | SCV002538263 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-31 | criteria provided, single submitter | curation |