ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3751+3G>A

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002770958 SCV003032757 uncertain significance Bloom syndrome 2024-09-05 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. It affects a nucleotide within the consensus splice site. 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: 1987010). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Ambry Genetics RCV004948774 SCV005541083 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-26 criteria provided, single submitter clinical testing The c.3751+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 18 in the BLM gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999810 SCV005624304 uncertain significance not provided 2024-08-28 criteria provided, single submitter clinical testing The BLM c.3751+3G>A variant has not been reported in individuals with BLM-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BLM mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.

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