ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2292T>G (p.Tyr764Ter)

dbSNP: rs2151164019
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385069 SCV001584780 pathogenic Bloom syndrome 2024-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr764*) 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: 1072379). For these reasons, this variant has been classified as Pathogenic.

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