ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1440dup (p.Ala481fs)

dbSNP: rs1596229894
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001011597 SCV001171935 pathogenic Hereditary cancer-predisposing syndrome 2019-07-24 criteria provided, single submitter clinical testing The c.1440dupT variant, located in coding exon 6 of the BLM gene, results from a duplication of T at nucleotide position 1440, causing a translational frameshift with a predicted alternate stop codon (p.A481Cfs*8). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003505157 SCV004337616 pathogenic Bloom syndrome 2023-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala481Cysfs*8) 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: 819226). For these reasons, this variant has been classified as Pathogenic.

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