ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3305_3306del (p.His1102fs)

dbSNP: rs1057516253
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411218 SCV000485361 likely pathogenic Bloom syndrome 2015-11-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000411218 SCV001207542 pathogenic Bloom syndrome 2023-02-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1102Argfs*20) 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: 370126). For these reasons, this variant has been classified as Pathogenic.

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