Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018075 | SCV001179258 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-09-19 | criteria provided, single submitter | clinical testing | The c.3020-4_3020-3delTT intronic variant, located in intron 14 of the BLM gene, results from a deletion of two nuclotides (TT), three and four nucleotides upstream from coding exon 15 of the BLM gene. This nucleotide region is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV003505158 | SCV004324177 | uncertain significance | Bloom syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 15 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. 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: 822599). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |