Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673943 | SCV000799203 | likely pathogenic | Bloom syndrome | 2018-04-06 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000673943 | SCV000943928 | pathogenic | Bloom syndrome | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr764Cysfs*10) 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 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: 557764). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001015091 | SCV001175885 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-31 | criteria provided, single submitter | clinical testing | The c.2291_2292delAT pathogenic mutation, located in coding exon 9 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 2291 to 2292, causing a translational frameshift with a predicted alternate stop codon (p.Y764Cfs*10). 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 | RCV000673943 | SCV004210851 | likely pathogenic | Bloom syndrome | 2023-09-28 | criteria provided, single submitter | clinical testing |