ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2488dup (p.Thr830fs) (rs367543019)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000035005 SCV000486744 likely pathogenic Bloom syndrome 2016-08-01 criteria provided, single submitter clinical testing
Invitae RCV000035005 SCV000834671 pathogenic Bloom syndrome 2018-04-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr830Asnfs*5) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772909011, ExAC 0.003%). This variant has been observed on the opposite chromosome (in trans) from another pathogenic variant in an individual affected with Bloom syndrome (PMID: 17407155). This finding is consistent with autosomal recessive inheritance, and suggests that this variant contributes to disease. ClinVar contains an entry for this variant (Variation ID: 42178). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.

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