ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.1088-5del

dbSNP: rs1596228766
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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 RCV000794084 SCV000933470 uncertain significance Bloom syndrome 2019-06-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 5 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with BLM-related disease.

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