ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2823G>A (p.Gln941=)

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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 RCV003614695 SCV004450286 uncertain significance Bloom syndrome 2023-03-26 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). RNA analysis performed to evaluate the impact of this variant on mRNA splicing indicates it does not significantly alter splicing (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 941 of the BLM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BLM protein. This variant also falls at the last nucleotide of exon 14, which is part of the consensus splice site for this exon.

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