ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3559-1G>A

dbSNP: rs1555424368
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628634 SCV000749538 likely pathogenic Bloom syndrome 2017-10-02 criteria provided, single submitter clinical testing Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). 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. This variant has not been reported in the literature in individuals with BLM-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 18 of the BLM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Natera, Inc. RCV000628634 SCV001456900 likely pathogenic Bloom syndrome 2020-09-16 no assertion criteria provided 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.