ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) (rs1555420842)

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
Counsyl RCV000467746 SCV000792094 likely pathogenic Bloom syndrome 2017-06-20 criteria provided, single submitter clinical testing
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.

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.