ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3875-2A>G (rs150421256)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409613 SCV000486224 likely pathogenic Bloom syndrome 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV000409613 SCV000814881 likely pathogenic Bloom syndrome 2018-02-06 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 20 of the BLM gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs150421256, ExAC 0.003%). This variant has not been reported in the literature in individuals with BLM-related disease. ClinVar contains an entry for this variant (Variation ID: 370814). 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.
Mendelics RCV000409613 SCV000838987 likely pathogenic Bloom syndrome 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021334 SCV001182937 likely pathogenic Hereditary cancer-predisposing syndrome 2019-06-19 criteria provided, single submitter clinical testing Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity;Rarity in general population databases (dbsnp, esp, 1000 genomes)
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090940 SCV001246733 likely pathogenic not provided 2019-09-01 criteria provided, single submitter clinical testing

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