ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2556G>T (p.Val852=)

dbSNP: rs1896650229
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001054976 SCV001219340 uncertain significance Bloom syndrome 2023-02-01 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 850740). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. This sequence change affects codon 852 of the BLM mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BLM protein. It affects a nucleotide within the consensus splice site.
Genetic Services Laboratory, University of Chicago RCV001819780 SCV002067247 uncertain significance not specified 2021-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436616 SCV002745172 likely pathogenic Hereditary cancer-predisposing syndrome 2023-04-19 criteria provided, single submitter clinical testing The c.2556G>T variant (also known as p.V852V), located in coding exon 12 of the BLM gene, results from a G to T substitution at nucleotide position 2556. This nucleotide substitution does not change the codon at 852. However, this change occurs in the first base pair of coding exon 12, which makes it likely to have some effect on normal mRNA splicing. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Natera, Inc. RCV001054976 SCV002088086 uncertain significance Bloom syndrome 2020-12-15 no assertion criteria provided clinical testing

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