ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.296_297CA[1] (p.Gln100fs) (rs745807085)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411055 SCV000487184 likely pathogenic Bloom syndrome 2016-10-18 criteria provided, single submitter clinical testing
Invitae RCV000411055 SCV000828129 pathogenic Bloom syndrome 2019-12-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln100Glufs*42) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745807085, ExAC 0.002%). This variant has been reported to segregate with pancreatic ductal adenocarcinoma in a family (PMID: 26546047). ClinVar contains an entry for this variant (Variation ID: 371569). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000411055 SCV000838946 pathogenic Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001017760 SCV001178893 pathogenic Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.