ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3222_3223del (p.Asp1076fs)

dbSNP: rs1555423753
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666852 SCV000791214 likely pathogenic Bloom syndrome 2017-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000666852 SCV002136934 pathogenic Bloom syndrome 2023-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551719). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp1076Cysfs*3) 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).
GeneDx RCV002260657 SCV002540489 pathogenic not provided 2024-09-30 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002442393 SCV002611356 pathogenic Hereditary cancer-predisposing syndrome 2021-06-29 criteria provided, single submitter clinical testing The c.3222_3223delAA pathogenic mutation, located in coding exon 16 of the BLM gene, results from a deletion of two nucleotides at nucleotide positions 3222 to 3223, causing a translational frameshift with a predicted alternate stop codon (p.D1076Cfs*3). 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.
Baylor Genetics RCV000666852 SCV004210855 likely pathogenic Bloom syndrome 2023-12-13 criteria provided, single submitter 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.