Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000798593 | SCV000938216 | uncertain significance | Bloom syndrome | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 6 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 644634). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 | RCV002352340 | SCV002654579 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-12-01 | criteria provided, single submitter | clinical testing | The c.1220+5C>G intronic variant results from a C to G substitution 5 nucleotides after coding exon 5 in the BLM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Natera, |
RCV000798593 | SCV001460776 | uncertain significance | Bloom syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |