ClinVar Miner

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

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525613 SCV000623305 pathogenic Bloom syndrome 2019-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1087Leufs*11) in the BLM gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Bloom syndrome (PMID: 17407155). ClinVar contains an entry for this variant (Variation ID: 454132). 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 RCV001019499 SCV001180867 pathogenic Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes)

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