ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter)

gnomAD frequency: 0.00002  dbSNP: rs770311534
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000681632 SCV000809076 likely pathogenic Bloom syndrome 2018-04-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020308 SCV001181768 pathogenic Hereditary cancer-predisposing syndrome 2019-09-03 criteria provided, single submitter clinical testing The p.K1147* pathogenic mutation (also known as c.3439A>T), located in coding exon 17 of the BLM gene, results from an A to T substitution at nucleotide position 3439. This changes the amino acid from a lysine to a stop codon within coding exon 17. 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.
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000681632 SCV002583684 likely pathogenic Bloom syndrome 2022-09-08 criteria provided, single submitter clinical testing PVS2 PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV000681632 SCV003028913 pathogenic Bloom syndrome 2024-06-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1147*) 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: 562196). For these reasons, this variant has been classified as Pathogenic.

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