ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1220+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003871592 SCV004680416 likely pathogenic Bloom syndrome 2023-11-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the BLM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BLM-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Baylor Genetics RCV003871592 SCV005058127 likely pathogenic Bloom syndrome 2024-02-19 criteria provided, single submitter clinical testing

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