ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)

gnomAD frequency: 0.00001  dbSNP: rs1400231534
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709362 SCV000838967 pathogenic Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000709362 SCV001578428 pathogenic Bloom syndrome 2023-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu753*) 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: 584888). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV004026782 SCV005022416 pathogenic Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The p.L753* pathogenic mutation (also known as c.2258T>A), located in coding exon 9 of the BLM gene, results from a T to A substitution at nucleotide position 2258. This changes the amino acid from a leucine to a stop codon within coding exon 9. 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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