ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3558+3A>G

gnomAD frequency: 0.00001  dbSNP: rs766386042
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000468303 SCV000543357 uncertain significance Bloom syndrome 2024-11-15 criteria provided, single submitter clinical testing This sequence change falls in intron 18 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs766386042, gnomAD 0.01%). 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: 405294). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004022562 SCV005023555 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-26 criteria provided, single submitter clinical testing The c.3558+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 17 in the BLM gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689742 SCV005185562 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000468303 SCV002090584 uncertain significance Bloom syndrome 2018-10-27 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.