ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1752del (p.Gln585fs)

dbSNP: rs1555419961
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671163 SCV000796113 likely pathogenic Bloom syndrome 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000671163 SCV002237880 pathogenic Bloom syndrome 2023-08-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555356). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 28724667). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln585Asnfs*33) 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).

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