Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000815911 | SCV000956390 | pathogenic | Bloom syndrome | 2019-03-19 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 2-4 of the BLM gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 4 of the BLM gene. This is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with BLM-related disease. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. |