Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034915 | SCV000623319 | pathogenic | Bloom syndrome | 2019-03-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1283*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed as homozygous in an individual affected with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 42089). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000034915 | SCV000793460 | likely pathogenic | Bloom syndrome | 2017-08-16 | no assertion criteria provided | clinical testing |