ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.74T>G (p.Leu25Ter)

dbSNP: rs1895534883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001878750 SCV002129747 pathogenic Bloom syndrome 2021-05-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu25*) 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 has not been reported in the literature in individuals with BLM-related conditions. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001878750 SCV005058139 likely pathogenic Bloom syndrome 2023-12-28 criteria provided, single submitter clinical testing

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