ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3499del (p.Ala1167fs)

dbSNP: rs1555424305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665331 SCV000789435 likely pathogenic Bloom syndrome 2017-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020451 SCV001181935 pathogenic Hereditary cancer-predisposing syndrome 2018-11-21 criteria provided, single submitter clinical testing The c.3499delG pathogenic mutation, located in coding exon 17 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3499, causing a translational frameshift with a predicted alternate stop codon (p.A1167Rfs*5). 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 RCV000665331 SCV001585508 pathogenic Bloom syndrome 2020-10-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala1167Argfs*5) 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 has not been reported in the literature in individuals with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 550553). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic.

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