Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001224424 | SCV001396616 | likely pathogenic | Bloom syndrome | 2022-10-23 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (Invitae). ClinVar contains an entry for this variant (Variation ID: 952330). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 3 of the BLM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). |
| Revvity Omics, |
RCV001224424 | SCV002018473 | pathogenic | Bloom syndrome | 2019-01-02 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV001224424 | SCV004210936 | likely pathogenic | Bloom syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing |