Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002351186 | SCV002622584 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-02 | criteria provided, single submitter | clinical testing | The c.1154delC pathogenic mutation, located in coding exon 5 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 1154, causing a translational frameshift with a predicted alternate stop codon (p.T385Ifs*7). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Labcorp Genetics |
RCV003102447 | SCV003471052 | pathogenic | Bloom syndrome | 2024-06-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr385Ilefs*7) in the BLM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 1734905). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003102447 | SCV005058143 | likely pathogenic | Bloom syndrome | 2023-12-23 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV003102447 | SCV005640426 | likely pathogenic | Bloom syndrome | 2024-05-15 | criteria provided, single submitter | clinical testing |