ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.942del (p.Ser315fs)

dbSNP: rs1555418701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674509 SCV000799856 likely pathogenic Bloom syndrome 2018-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002442401 SCV002683163 pathogenic Hereditary cancer-predisposing syndrome 2022-06-23 criteria provided, single submitter clinical testing The c.942delC pathogenic mutation, located in coding exon 3 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 942, causing a translational frameshift with a predicted alternate stop codon (p.S315Lfs*8). 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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