Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000534534 | SCV000623260 | pathogenic | Bloom syndrome | 2023-08-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser72Leufs*3) 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 0.0009%). 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: 454095). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002420336 | SCV002726129 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-06-16 | criteria provided, single submitter | clinical testing | The c.213_214delTT pathogenic mutation, located in coding exon 2 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 213 to 214, causing a translational frameshift with a predicted alternate stop codon (p.S72Lfs*3). 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. |
| Baylor Genetics | RCV000534534 | SCV004210901 | likely pathogenic | Bloom syndrome | 2023-04-08 | criteria provided, single submitter | clinical testing |