ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2074+1G>T (rs367543036)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000034892 SCV000485652 likely pathogenic Bloom syndrome 2016-01-20 criteria provided, single submitter clinical testing
Invitae RCV000034892 SCV000543336 likely pathogenic Bloom syndrome 2017-04-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8 of the BLM gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in an individual affected with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 42066). In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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