ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.959+1_959+9del (rs765061205)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672659 SCV000797786 likely pathogenic Bloom syndrome 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000672659 SCV000823834 likely pathogenic Bloom syndrome 2018-04-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the BLM gene. It is expected to disrupt RNA splicing and likely results 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. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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