Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000704332 | SCV000833277 | pathogenic | Bloom syndrome | 2023-10-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met1190Lysfs*27) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with BLM-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002458303 | SCV002613148 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-11-29 | criteria provided, single submitter | clinical testing | The c.3569delTinsAA pathogenic mutation, located in coding exon 18 of the BLM gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon. 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. |