Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001059733 | SCV001224377 | uncertain significance | Familial cancer of breast | 2020-04-27 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 2 of the BARD1 gene. It does not directly change the encoded amino acid sequence of the BARD1 protein. |
Color Diagnostics, |
RCV001525519 | SCV001735656 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-05-26 | criteria provided, single submitter | clinical testing | This variant causes a T to A nucleotide substitution at the -6 position of intron 2 of the BARD1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |