Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000707648 | SCV000836752 | uncertain significance | Bloom syndrome | 2021-04-19 | criteria provided, single submitter | clinical testing | This sequence change affects codon 780 of the BLM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BLM protein. This variant is present in population databases (rs756031754, ExAC 0.001%). This variant has not been reported in the literature in individuals with BLM-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |
| Ambry Genetics | RCV001015236 | SCV001176051 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-11-21 | criteria provided, single submitter | clinical testing | The c.2340G>A variant (also known as p.L780L), located in coding exon 10 of the BLM gene, results from a G to A substitution at nucleotide position 2340. This nucleotide substitution does not change the leucine at codon 780. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |