ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2307+1G>C

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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 RCV003615228 SCV004523322 uncertain significance Bloom syndrome 2024-01-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10 of the BLM gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. 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. Studies have shown that disruption of this splice site results in skipping of 10 , but is expected to preserve the integrity of the reading-frame (Inviate). 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.

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