Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000822653 | SCV000963463 | pathogenic | Bloom syndrome | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys237Alafs*12) 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 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: 664539). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002363170 | SCV002662600 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-17 | criteria provided, single submitter | clinical testing | The c.709delT pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 709, causing a translational frameshift with a predicted alternate stop codon (p.C237Afs*12). 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. |
| Fulgent Genetics, |
RCV000822653 | SCV002797838 | likely pathogenic | Bloom syndrome | 2022-04-03 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000822653 | SCV004210888 | likely pathogenic | Bloom syndrome | 2023-05-25 | criteria provided, single submitter | clinical testing |