ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.814A>T (p.Lys272Ter)

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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 RCV003506577 SCV004296602 pathogenic Bloom syndrome 2023-07-28 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys272*) 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 premature translational stop signal has been observed in individual(s) with Bloom syndrome (PMID: 7585968). This variant is also known as A>T at position 888. For these reasons, this variant has been classified as Pathogenic.

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