Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467746 | SCV000543351 | pathogenic | Bloom syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | This sequence change inserts 2 nucleotides in exon 11 of the BLM mRNA (c.2343_2344dupGA), causing a frameshift at codon 782. This creates a premature translational stop signal (p.Asn782Argfs*34) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000467746 | SCV000792094 | likely pathogenic | Bloom syndrome | 2017-06-20 | criteria provided, single submitter | clinical testing |