ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter) (rs587783037)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144576 SCV000543386 pathogenic Bloom syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1139*) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs587783037, ExAC 0.003%). This variant has been observed in individuals affected with Bloom syndrome (PMID: 17407155, 24932421). ClinVar contains an entry for this variant (Variation ID: 156484). Loss-of-function variants in BLM are known to be pathogenic (PMID: 17407155). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001020241 SCV001181694 pathogenic Hereditary cancer-predisposing syndrome 2018-12-10 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Other data supporting pathogenic classification
Pathway Genomics RCV000144576 SCV000189876 pathogenic Bloom syndrome 2014-07-24 no assertion criteria provided clinical testing

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