ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.839_888del (p.Glu279_Leu280insTer)

dbSNP: rs1567036579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698648 SCV000827328 pathogenic Bloom syndrome 2024-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu280*) 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 not present in population databases (gnomAD no frequency). 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: 576209). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002440495 SCV002677719 pathogenic Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter clinical testing The c.839_888del50 pathogenic mutation, located in coding exon 3 of the BLM gene, results from a deletion of 50 nucleotides at nucleotide positions 839 to 888, causing a translational frameshift with a predicted alternate stop codon (p.L280*). 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.

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