ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2400C>A (p.Val800=)

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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 RCV002853439 SCV003231879 uncertain significance Bloom syndrome 2022-08-21 criteria provided, single submitter clinical testing 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. Studies have shown that this variant is associated with altered splicing resulting in unknown protein product impact (Invitae). This variant has not been reported in the literature in individuals affected with BLM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 800 of the BLM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BLM protein.

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