ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2818dup (p.Cys940fs)

dbSNP: rs2151179952
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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 RCV001935138 SCV002174649 pathogenic Bloom syndrome 2021-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys940Leufs*15) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (ExAC no frequency).

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