ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1180_1181del (p.Leu394fs)

dbSNP: rs758132052
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 RCV001225612 SCV001397896 pathogenic Bloom syndrome 2024-01-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu394Glyfs*23) 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). This variant is present in population databases (rs758132052, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 953335). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV003284079 SCV004003079 pathogenic Hereditary cancer-predisposing syndrome 2023-04-20 criteria provided, single submitter clinical testing The c.1180_1181delTT pathogenic mutation, located in coding exon 5 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 1180 to 1181, causing a translational frameshift with a predicted alternate stop codon (p.L394Gfs*23). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.