ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3261del (p.Phe1087fs) (rs1319786857)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525613 SCV000623305 pathogenic Bloom syndrome 2017-03-04 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 17 of the BLM mRNA (c.3261delT), causing a frameshift at codon 1087. This creates a premature translational stop signal (p.Phe1087Leufs*11) 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 in individuals affected with Bloom syndrome (PMID: 17407155), and is considered a possible European / North American founder variant. For these reasons, this variant has been classified as Pathogenic.

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