ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3890del (p.Pro1297fs)

dbSNP: rs1555425062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670228 SCV000795058 likely pathogenic Bloom syndrome 2017-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670228 SCV001411379 pathogenic Bloom syndrome 2019-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro1297Glnfs*3) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. 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: 554568).
Ambry Genetics RCV002352094 SCV002620647 pathogenic Hereditary cancer-predisposing syndrome 2020-11-02 criteria provided, single submitter clinical testing The c.3890delC variant, located in coding exon 20 of the BLM gene, results from a deletion of one nucleotide at nucleotide position 3890, causing a translational frameshift with a predicted alternate stop codon (p.P1297Qfs*3). 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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