ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3210+1G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474382 SCV004210935 likely pathogenic Bloom syndrome 2022-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004604950 SCV005101903 likely pathogenic Hereditary cancer-predisposing syndrome 2024-05-30 criteria provided, single submitter clinical testing The c.3210+1G>A intronic variant results from a G to A substitution one nucleotide after coding exon 15 of the BLM gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site and may result in the creation or strengthening of a novel splice donor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as likely pathogenic.

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