ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3013_3019+4del

gnomAD frequency: 0.00001  dbSNP: rs765392662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217257 SCV001389091 likely pathogenic Bloom syndrome 2021-10-03 criteria provided, single submitter clinical testing 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 ExAC database. This variant results in the deletion of part of exon 15 (c.3013_3019+4del) 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). 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. ClinVar contains an entry for this variant (Variation ID: 946395).

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