ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2341_2342GA[3] (p.Asn782fs) (rs1555420842)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467746 SCV000543351 pathogenic Bloom syndrome 2016-11-18 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 11 of the BLM mRNA (c.2343_2344dupGA), causing a frameshift at codon 782. This creates a premature translational stop signal (p.Asn782Argfs*34) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000467746 SCV000792094 likely pathogenic Bloom syndrome 2017-06-20 criteria provided, single submitter clinical testing

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