ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3752-13T>G

gnomAD frequency: 0.00001  dbSNP: rs778248812
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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 RCV001992071 SCV002277567 uncertain significance Bloom syndrome 2022-10-04 criteria provided, single submitter clinical testing This sequence change falls in intron 19 of the BLM gene. It does not directly change the encoded amino acid sequence of the BLM protein. RNA analysis indicates that this variant induces altered splicing and likely results in the gain of 4 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is present in population databases (rs778248812, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with BLM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1496812). Studies have shown that this variant results in the activation of a cryptic splice site in intron 19 (Invitae). 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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