ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2539del (p.Ile847fs) (rs770751979)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628660 SCV000749565 pathogenic Bloom syndrome 2017-12-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile847Phefs*9) in the BLM gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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). For these reasons, this variant has been classified as Pathogenic.

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