ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1087+1G>A

dbSNP: rs1179486581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669379 SCV000794127 likely pathogenic Bloom syndrome 2017-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669379 SCV000817673 likely pathogenic Bloom syndrome 2022-06-15 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 553853). This variant has not been reported in the literature in individuals affected with BLM-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects a donor splice site in intron 5 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).
Baylor Genetics RCV000669379 SCV004210920 likely pathogenic Bloom syndrome 2024-01-05 criteria provided, single submitter clinical testing

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