ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2193+1G>T

dbSNP: rs865866188
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014689 SCV001175430 likely pathogenic Hereditary cancer-predisposing syndrome 2023-06-14 criteria provided, single submitter clinical testing The c.2193+1G>T intronic variant results from a G to T substitution one nucleotide after coding exon 8 of the BLM gene. 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. 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. As such, this alteration is classified as likely pathogenic.

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