ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3251_3255del (p.Ile1084fs)

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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 RCV005120397 SCV005739252 pathogenic Bloom syndrome 2024-04-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile1084Lysfs*7) 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. For these reasons, this variant has been classified as Pathogenic.

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