ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2506del (p.Arg836fs)

dbSNP: rs1567045531
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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 RCV000705086 SCV000834066 pathogenic Bloom syndrome 2019-07-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BLM-related disease. Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This sequence change creates a premature translational stop signal (p.Arg836Glyfs*7) in the BLM gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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