ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.608_609del (p.Thr203fs)

dbSNP: rs1170049553
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669465 SCV000794221 likely pathogenic Bloom syndrome 2017-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669465 SCV001590404 pathogenic Bloom syndrome 2023-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr203Serfs*4) 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). For these reasons, this variant has been classified as Pathogenic. 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).
Revvity Omics, Revvity RCV000669465 SCV002018429 pathogenic Bloom syndrome 2019-02-12 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.