ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1289_1290insAT (p.Tyr430Ter)

dbSNP: rs749512704
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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 RCV001999998 SCV002235538 pathogenic Bloom syndrome 2021-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr430*) 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 present in population databases (rs749512704, gnomAD 0.006%). 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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