ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) (rs786204471)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169119 SCV000220322 likely pathogenic Bloom syndrome 2014-05-15 criteria provided, single submitter literature only
Invitae RCV000169119 SCV000283120 pathogenic Bloom syndrome 2019-10-29 criteria provided, single submitter clinical testing This sequence change inserts 4 nucleotides in exon 10 of the BLM mRNA (c.2250_2251insAAAT), causing a frameshift at codon 751. This creates a premature translational stop signal (p.Leu751Lysfs*25) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in BLM are known to be pathogenic. This particular variant has been reported as heterozygous with pathogenic mutations in the BLM gene in two unrelated individuals in the Bloom's Syndrome Registry (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001014933 SCV001175706 pathogenic Hereditary cancer-predisposing syndrome 2019-07-17 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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